Regulating the Next Generation of Genetic Tests

Gene sequencing – also known as genetic testing – is the process scientists use to analyze DNA in search of mutations and variations in an effort to discover more about the connection between genes and traits, health and disease. Since the discovery of BRCA 1 in 1994, the sequencing of genes to find mutations has held importance for people with cancer in their family. With advances in biomedical technology, scientists have developed ways to process thousand of genes at the same time (in parallel) and at lower cost than earlier sequencing methods. These next-generation – or “next-gen” – sequencing (NGS) methods have brought opportunities and challenges to the field of genetics. NGS has allowed the development of panel tests that can look for mutations in many genes, including newly identified genes that might increase cancer risk. One of the challenges involves developing regulations to ensure that the resulting information is of maximum benefit to consumers. Recently, the FDA conducted a forum seeking public input about how these tests might be regulated. FORCE attended and testified on this topic.

Benefits and Challenges of NGS: Genetic tests for cancer-causing gene mutations allow people to better understand their risk for cancer, and take appropriate proactive steps against the disease. The test for BRCA mutations was the first commercially available test to help people make informed decisions about cancer prevention. Now, 20 years later, research indicates that knowing one’s BRCA status and taking risk-reducing steps can help people with mutations live longer. Experts use this information to help people make informed health care decisions to manage their cancer risk. But genetics is not an exact science, and even after two decades of research, and there are still health outcomes associated with living with a BRCA mutation that remain unknown.

We know even less about many of the genes included in NGS panel tests. These panel tests are being offered to consumers to help them assess personal cancer risk, but not nearly enough research has been conducted to identify specific risks and outcomes associated with mutations in some genes in these panels, and even less research is available concerning the best ways to manage cancer risk in individuals who have mutations in these genes.

Oversight of Laboratories That Conduct Diagnostic Tests: The federal government has regulatory standards for clinical laboratories to assure the quality of the labs and the tests they perform. But, these government agencies do not regulate other aspects of genetic testing such as:

  • Whether the tests have clinical utility
    Genetic tests for cancer risk are most useful if results can guide decision-making and most people assume that a test that is commercially available must have value for decision-making. But not all gene changes included in some NGS panel tests have been consistently linked to increased cancer risk. Some gene mutations increase risk, but not enough to change recommendations for risk management. Some genes are not associated with a specific cancer syndrome but still may increase an individual’s risk of some cancers. Currently tests that are run at certified laboratories are not required to meet any standard for clinical usefulness.
  • How the labs interpret and report variant results
    Panel testing returns a high incidence of genes that show a variant of uncertain significance (VUS) – a genetic variation for which the affect on risk of developing cancer is not completely understood. Such results make it exceedingly difficult for experts to advise patients about effective risk-management strategies and to identify family members who should consider genetic testing. Incorrect interpretation of VUS results in BRCA has led to adverse events in some patients, and with the growth of next-gen sequencing, in which VUS rates for some genes may exceed 50%, the incidence of adverse events seems likely to increase.
  • How the laboratories market these tests to doctors and consumers
    People are making medical decisions today based on panel test results, sometimes in the absence of evidence. Therefore, the information that labs provide about these tests, and how they market them to doctors and consumers are significant matters. FORCE was one of the first advocacy organizations to support government oversight of genetic test marketing. In 2009, we provided testimony to the Secretary of Health’s Advisory Committee on this topic, and based on that testimony, the FDA implemented a mechanism for health care providers to report adverse events stemming from laboratory tests.

The full potential of predictive testing can be realized only if patients receive credible and current information that helps them make fully informed decisions. Toward that end, FORCE recently testified that regulatory oversight of genetic testing laboratories ensures that:

  • Patients have access to trained genetics experts who are fully independent of testing labs and can provide them with standard-of-care genetic counseling for all the hereditary syndromes for which they may be at risk – both before and after genetic testing.
  • Individuals performing genetic counseling and interpreting test results meet minimum certification and continuing education requirements.
  • Genetic counselors receive appropriate recognition as health care practitioners by all payers, including Medicare.
  • Patients at increased risk for cancer can access services proven to reduce risk and improve survival or health outcomes—including breast MRI and prophylactic oophorectomy.
  • Resources are allocated to coordinate policies between the United States Preventive Services Task Force (USPSTF), Centers for Medicare and Medicaid Services (CMS), the Food and Drug Administration (FDA), payers, and other agencies.
  • The legal provisions of Genetic Information and Non-discrimination Act (GINA) and the Patient Protection and Affordable Care Act (PPACA) are vigilantly enforced, and expanded protections for life, disability and long-term care insurance are considered.
  • A process for reporting adverse events associated with NGS – including misinterpretation of test results – is in place and accessible to patients.
  • All laboratories contribute variant data to the publicly accessible database known as ClinVar, and quality control and oversight procedures are created for this public archive that collects information about genomic variation and its relationship to human health.

We will continue to be involved in this dialogue with the regulatory agencies to assure that the best overall health outcomes of consumers remains a priority, and will continue to update you as this topic evolves.

In the meantime FORCE is a resource for all people and families affected by or at increased risk for hereditary breast, ovarian, and related cancers. We are actively building our ABOUT Network Research Registry to study long-term health outcomes for people affected by HBOC and help improve guidelines for medical decision-making.Our registry and our FORCE programs help people who have tested positive for mutations in BRCA, PALB2, PTEN, and other genes linked to cancer, people who have a family history of cancer, those who received inconclusive test results, and those who have not had genetic testing but are concerned about their cancer risk.

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Guest Blog: Join FORCEs at our 2015 HBOC Conference!

by guest blogger, Jane E. Herman

May Goren PhotographyWhen I boarded the flight for my first trip to Orlando in June 2011, my goal was not to hug Mickey Mouse or visit Cinderella’s Castle. Rather, my destination was the sixth annual Joining FORCEs Conference. Not knowing anyone who would be in attendance, I was – not unexpectedly – equal parts nervous and excited.

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Me and my mom.

During the course of the previous year, I’d lost my mom to breast cancer, tested positive for a BRCA2 gene mutation, and had a laparoscopic hysterectomy. Four weeks after the conference, I was scheduled for a prophylactic bilateral mastectomy and immediate reconstruction using my own abdominal tissue, which would be micro-surgically reconnected to create new breasts.

The only known mutation carrier in my family at the time, I had met a few BRCA sisters at meetings of New York City’s FORCE group, but I was hungry for more – more medical information, more quality-of-life tidbits, and, perhaps most of all, more (and deeper) connections with others who “get it.” I couldn’t wait to talk to people about my experiences – and learn about theirs – without having to start the conversation by explaining what a BRCA mutation is and how drastically it increased my lifetime risk of breast and ovarian cancer.

From the minute I climbed aboard the shuttle, I got exactly what I needed. Before we’d even left the airport, several fellow riders and I had already connected, sharing details of our BRCA and HBOC journeys for much of the trip to the hotel.

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I came alone to my first conference but soon bonded with kindred spirits.

The next two and a half days flew by in a kaleidoscope of attending large and small group sessions, networking, taking notes, sharing stories, swapping email addresses, strolling through the exhibit area (and making a purchase or two!), attending the ever-popular “show and tell” (for women only, of course), asking questions, and chatting one-on-one with doctors, genetics professionals, and many of the hundreds of BRCA sisters (and a few brothers) who joined me at the conference.

There were a few tears as well, especially when I talked with mother/daughter pairs traveling the BRCA road side-by-side. How I envied their togetherness, and, oh, how I longed for my own mother and for her to know about this thing that we shared. For every tear, however, there were a hundred hugs – and I don’t mean “air hugs.” I mean real, honest to goodness (if you’ll pardon the expression) boob-crushing hugs.

When I returned to Orlando in October 2012 for the seventh annual Joining FORCEs Conference, the hugs began as soon as I entered the hotel lobby.

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Dave Bushman provides helpful genealogy tips.

 

Words cannot begin to express my joy at seeing in person the friends with whom I’d been emailing, texting, and Facebooking for the last year. As in 2011, the days flew by in a whirlwind that was both the same and different from the previous gathering. Presentations by researchers and clinicians brought us up-to-date on the latest developments in a field that moves at lightning speed, while the exhibit hall, once again, offered fun jewelry, pretty scarves, useful products, and connections to an array of organizations whose work benefits members of the HBOC community. Perhaps most significant for me was that with my own mastectomy in the rearview mirror, I was able to “pay it forward” as a “show-er” during “show and tell,” proud of what I’d done and more than willing to share my experience – the good and the not-so-good – with those who were standing where I’d been just one year earlier.

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FORCE volunteers bonding at 2014 conference

By June 2014, when the eighth annual Joining FORCEs Conference was held in Philadelphia (in partnership with the Basser Research Center for BRCA), I’d been an Outreach Coordinator for New York City FORCE for 18 months. My co-facilitator Laura and I not only drove together to Philadelphia, but also organized a group dinner at a local restaurant on Friday night so attendees from our NYC group could spend time together. In addition to all the things I’d come to know and love at the FORCE conferences – the large and small group sessions, the exhibit hall, the networking, the sharing, and, most especially, the hugs – this time around, my days also included early morning Outreach Coordinator meetings and several sessions designed specifically for participants in FORCE’s Research Advocate Training (FRAT) program.

Conference logo with tagline jpegNeedless to say, I’m eagerly awaiting this spring’s ninth annual Joining FORCEs Conference in Philadelphia for so many reasons. Registration is open now, and I hope to see you there!


Jane E. Herman
, an Outreach Coordinator in New York City, is the executive writer and editor at the Union for Reform Judaism. She maintains a slice-of-life blog, JanetheWriter.com, where, among other things, she writes often about her experiences as a BRCA2 mutation carrier.

 

Education, Medical Decisions, and Regret

A recent AARP article that contained an interview with rock stars Sheryl Crow and Melissa Etheridge brought awareness to the individual and personal nature of genetic testing, hereditary breast and ovarian cancer (HBOC), and the medical challenges that accompany inherited breast cancer. The article also led to some heated responses from members of the HBOC community. 

 

The HBOC community has had its share of celebrities. Whenever public figures disclose that they carry a BRCA mutation or have hereditary cancer in the family, it raises the profile and awareness of hereditary cancer. Christina Applegate, Sharon Osbourne, and, most prominently, Angelina Jolie, have all revealed their mutation status. Others, like René Syler, Cynthia Nixon, and Wanda Sykes have shared their family histories, and although they have not tested positive for BRCA, some other familial factor may be causing breast cancer in their families.

It’s difficult enough making medical decisions around HBOC, but celebrities have an added burden of being in the public eye. People look up to them. As individuals in the spotlight share their journeys and decisions, the public assumes they have access to top information and the best doctors. More weight is given to celebrities’ opinions and medical choices than those of the average person, and we often take for granted that celebrities’ statements are accurate.

The AARP interview quoted Ms. Etheridge as saying, “I have the BRCA2 gene but I don’t encourage women to get tested.” Although she doesn’t use the word “regret” it certainly sounds as though she has misgivings about testing. Melissa Etheridge is a member of the HBOC community, and by extension a member of FORCE’s constituency. FORCE empowers people to make informed medical decisions. We validate their feelings, and support people on the HBOC journey. I support Ms. Etheridge’s decisions, but I am saddened to think she has regrets about her choices.

Ms. Etheridge said in the AARP article that her doctor recommended testing, but she never mentions receiving genetic counseling from a qualified expert. I do think this could have changed her perception of genetic testing and highlights the value of receiving comprehensive information on which to base your medical decisions. Information can be the antidote to regret.

In the interview, Ms. Etheridge also says, “Genes can be turned on and off. I turned my gene on with my very poor diet.” FORCE wrote a letter that was co-signed by members of our scientific advisory board and sent to the editor of AARP regarding Ms. Etheridge’s statement. USA Today subsequently published an article about our letter to AARP which included interviews with members of FORCE and the HBOC community who expressed views that differed with Ms. Etheridge. Many members of our community consider the information received from genetic counseling and testing as lifesaving. In FORCE’s letter, we expressed concern that readers may think that BRCA mutations and their effects on cancer risk can be modulated solely with diet to prevent cancer, and conversely that those with mutations who become diagnosed with cancer somehow caused it with a poor diet. Although several studies have shown that eating a healthy diet can lower the risk for certain cancers, these studies have been large-scale general population studies, and the actual protection for a given individual may be small. There are many reasons to eat a varied and healthy diet, including protection from numerous diseases. But not enough evidence suggests that diet and lifestyle alone can protect people from BRCA-associated cancers.

Screen Shot 2014-12-15 at 12.04.41 PMI do want to point out that our letter was directed to the editors at AARP and not Ms. Etheridge, who is entitled to her opinion on testing. Our issue is the lack of context and evidence-based information that surrounded her statements about cancer risk, diet, and genetic testing that could have educated AARP’s readership, and helped readers to make their own informed decisions about whether or not to undergo genetic testing.

I believe that access to a genetics expert and support via FORCE empowers people to make the medical decisions that are right for them. Ms. Etheridge’s example shows that we can do a much better job of educating and supporting people facing hereditary cancer; it highlights the critical need for FORCE to continue our efforts to help people feel empowered and live the healthiest and most fulfilled lives possible.

When HBOC is in the news, it opens a discussion, demystifies inherited cancer, and removes the stigma associated with words like cancer, mutation, and mastectomy. Medically inaccurate information about cancer, genetics, and HBOC, however, is abundant in the media and harmful to consumers. This is why FORCE is launching our XRAYS (eXamining the Relevance of 

???Articles for Young Survivors) program, which is supported by a grant from the Centers for Disease Control. The funding comes from passage of the EARLY Act, legislation that was first introduced to Congress by Representative Wasserman Schultz, who also carries a BRCA mutation, and is up for congressional renewal. The EARLY Act funds programs by organizations that focus on young women and breast cancer. FORCE’s XRAYS Program will allow us to critically review articles in the media, correct any inaccuracies, and write a lay level summaries of the research or information presented. The reviews will be accompanied by an “at-a-glance” graphic representation for readers to easily determine if they should read and believe the article and what relevance it may hold for their situation.

Regardless of her personal feelings about testing, I hope that in time, Ms. Etheridge is able to recognize that many people (not all) feel that having genetic information about cancer risk can improve their health outcomes, and that she appreciates the value of a more balanced public position on BRCA testing.

 

Health Care Providers Can Help Accelerate Hereditary Cancer Research

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1 in 500 people (0.2% of the population) carries a BRCA mutation, yet we constitute about 10% of people with breast or ovarian cancer. The HBOC community shoulders a disproportionate cancer burden.

Why HBOC research is important
Hereditary cancers constitute a small subset of a larger disease state. About 7% of breast cancers and 18% of ovarian cancers are due to a BRCA mutation. The HBOC community shoulders a disproportionate cancer burden, facing lifetime cancer risks that are higher than any other known population. Our cancers tend to be younger onset and more aggressive, we are at risk for second and third primary cancer diagnoses, and our risk can be passed on to our children and shared with relatives. We are a subset of the larger cancer community, yet our cancers develop differently, more quickly, and may respond differently to treatments than sporadic cancers.

After years of advocacy, HBOC research is getting some well-deserved attention. But to continue this progress, we need to ensure that these studies enroll adequate numbers of patients. A previous blog touched on the complex, multifaceted challenges to HBOC research recruitment and the shared responsibility of all stakeholders to overcome these barriers. This blog focuses on specific barriers to HBOC research and the integral role health care professionals can play in overcoming these barriers to accelerate progress in preventing and treating hereditary cancers. 

Health care providers as partners in research recruitment
Patients trust and rely on their medical teams to provide the best care specific to their individual situations. Research shows that physicians play a key role in educating patients about research studies. Yet, the same studies also show that physicians do not always inform patients about clinical trials elsewhere due to institutional barriers and personal biases. For this reason we are asking health care providers to join FORCE in our campaign to promote awareness and participation in research among the HBOC community.  We ask that oncology health care providers consider the following for all their patients:

  • Refer patients who meet NCCN criteria for genetic evaluation as soon as possible after diagnosis.
  • Discuss the availability of clinical trials with newly diagnosed or newly relapsed patients.
  • Consider which clinical trial, including those outside the health care provider’s facility or practice, that might be the best match for a patient,
  • Inform patients if a particular treatment might impact their eligibility for a clinical trial. 
  • Refer patients to FORCE as a resource and to assist with clinical trial matching.

HBOC specific research studies
HBOC cancers develop due to the presence of a germ-line mutation in one of the BRCA genes. Scientists are researching how to exploit these deficits to better prevent or treat hereditary cancers. For example, PARP inhibitors, first studied in 2005, attack the weaknesses of BRCA-related cancer cells in repairing DNA damage. Despite promising results, delays and roadblocks have delayed the path to FDA approval; more than eight years later, we still have no FDA-approved PARP inhibitors, and people are still dying of hereditary cancers. Research of PARP inhibitors is finally progressing, with more HBOC-specific open studies urgently pursuing patient enrollment.  Failure to completely accrue these studies could derail future HBOC research by creating the perception that the HBOC community is not motivated to participate in research, and that as a cohort, we are too difficult to recruit. Health care providers can play a powerful role in surmounting enrollment obstacles by simply informing their patients about clinical trials.

Challenge: Competing clinical trials and matching patients
HBOC-specific clinical trials compete with each other for participants, and compete with larger, more numerous studies that are not limited to people with mutations. For example, a recent search of clinicaltrials.gov for U.S. treatment trials enrolling people with metastatic, BRCA-associated breast cancer returned 11 studies. A similar search for all metastatic breast cancer studies returned over 200 clinical trials with broader recruitment criteria. Of 60 advanced ovarian cancer treatment studies listed, just eight were specifically for patients with BRCA mutations. The implications are concerning for the HBOC community: a mutation carrier with advanced breast or ovarian cancer has a higher likelihood of finding and enrolling in a less-specific clinical trial than one of the few studies open to someone with their specific cancer and mutation type. 

Solution: Maintain awareness of HBOC clinical trials and refer appropriate patients to studies, even those at other institutions
We encourage all health care providers who work in oncology to stay updated on clinical trials that are recruiting HBOC patients. FORCE provides two helpful tools to do so: our Health Care Provider electronic updates (sign up here and choose the “Updates for Health Care Providers” option), and our online list of HBOC research.  Next month we will be launching an HBOC-specific clinical trials searchable database to better match patients to relevant clinical trials.

If your institution or practice has HBOC-related research that you would like to have included in our database, please send an overview and contact information for the study to Lisa Rezende at lisar@facingourrisk.org.

Challenge: Clinical trials are seen as a “last resort” and certain treatments may impact eligibility for studies
An erroneous perception exists that clinical trials are a “last resort” for treating patients who have progressed after several different therapies. Many patients report that they have been discouraged from participating in a trial because they haven’t exhausted all their treatment options yet. Additionally, in addition to studies for  those with advanced cancer, there are clinical trials enrolling HBOC patients for cancer prevention, earlier-stage disease, and maintenance therapy for patients who have completed treatment.

Further, certain treatments may affect a patient’s eligibility for some clinical trials. For example, newly-diagnosed breast cancer patients who undergo lumpectomy or mastectomy become ineligible for neo-adjuvant chemotherapy studies. Receiving a certain chemotherapy or a certain number of prior treatments may render patients ineligible for some PARP inhibitor studies.

Solution: Discuss clinical trials before beginning treatment
Because patients who do not receive the most up-to-date and comprehensive information about clinical trial options are less likely to make informed decisions about their care, health care providers should consider notifying patients about clinical trial options before starting treatment or resuming treatment after a recurrence. We encourage health care providers to inform hereditary cancer patients sooner rather than later about the existence of HBOC-specific research, even those at separate or competing facilities. Health care providers and patients can find relevant research studies listed on the FORCE website.

Challenge: Underutilized genetic testing
Research has shown that genetic counseling and testing are underutilized services for those who meet national guidelines. Every woman diagnosed with breast cancer at age 50 or younger, and every woman diagnosed with ovarian cancer at any age meets national consensus guidelines for referral for genetic counseling. Despite these national guidelines, a recent study showed that 57% of women diagnosed with breast cancer at age 50 or younger did not receive genetics evaluation.

Solution: Refer all patients who meet national guidelines for genetic counseling and testing

Every breast cancer patient who has a family history or who was diagnosed at or before age 50, and every ovarian cancer patient meets NCCN guidelines for referral for genetic evaluation. Although BRCA test results may affect some breast cancer surgical decisions, impact risk for future cancers, and can inform a patient’s relatives of their risk for cancer, genetic counseling and testing of newly diagnosed breast and ovarian cancer patients often does not receive high priority. Treatment clinical trials that specifically recruit people with BRCA-associated cancers provide one more reason for health care providers to recommend genetic evaluation to newly diagnosed breast and ovarian cancer patients.

Solving the problem of hereditary cancer requires a maintained, concerted effort. We hope our health care provider partners will read, consider, and share this blog with colleagues and follow these steps to accelerating research.

FORCE 15: Reasons to Join FORCEs and Attend Our 8th Annual Conference

Need a reason to attend this year’s Joining FORCEs Conference? Here are 15 good ones:

  1. It’s the largest annual gathering by and for the hereditary cancer community.  Be a part of this landmark event.
  2. We make the latest science understandable and accessible. Hear experts clearly explain the science of hereditary cancer and make the latest research and medical options understandable and accessible no matter where you are in the HBOC journey.conference1
  3. We cover every aspect of HBOC. View our agenda to see a complete list of the 48 separate lectures, workshops and networking sessions.
  4. Sessions are organized to help you find the information you most need.  Our conference content is aligned into tracks that focus on different groups.  View a list of suggested sessions based on your specific situation.
  5. We bring researchers to you.  You’ll hear the latest scientific findings presented first-hand by world-class experts, and have the unprecedented opportunity to speak one-on-one with researchers about your own pressing issues.dr_levine_round_table_small
  6. Benefit from the experience of others.  Meet, chat and bond with hundreds of others who share your concerns.  Hear the poignant personal stories of people just like you who have faced hereditary cancer.  Talk face-to-face with your virtual friends who have supported you on Facebook or the FORCE message boards. Build relationships that will last a lifetime.
  7. See and hear about women’s real post-mastectomy surgical results.  If you’re considering your surgical options, visit our Show & Tell room to chat with women who have already undergone mastectomy. Every type of reconstruction and mastectomy without reconstruction is showcased.  Meet and speak with plastic surgeons who perform these surgeries, and Kathy Steligo, author of The Breast Reconstruction Guidebook. Participate in our photo shoot to help other women make decisions about surgery.
  8. Gain information and support to help make important health care decisions.  Learn the latest information, guidelines, and emerging science to help you overcome one of the biggest challenges of living with HBOC: sorting through medical options so that you can make health care decisions that are right for you. From risk-management to fertility options, from emerging tools for cancer detection to long-term survivorship issues, from hormone replacement to enrolling in a clinical trial, our conference sessions will help you make decisions with the most up-to-date information.
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  9. Enroll in research.  Make a difference.  Learn about and enroll in studies that will offer better answers for ourselves and future generations.
  10. Give back to the community by volunteering. Learn about FORCE volunteer opportunities and meet our volunteer team.
  11. Meet our Spirit of Empowerment Award winners. Every year we honor people who contribute to the HBOC community and support the work of FORCE. This year we honor annual_awards_compassionawardcancer survivor Annie Parker, whose personal struggle with hereditary cancer is the basis for the Hollywood film, Decoding Annie Parker; Kara DioGuardi, GRAMMY-nominated songwriter, previvor and former American Idol judge; Stacey Sager, Channel 7 Eyewitness News reporter and two-time cancer survivor; the sister team of Sisco Berluti Jewelry, and others.
  12. Bond with family members. Sharing the conference with family members is a unique bonding experience that will help your loved ones to better understand your choices, and empower them to make their own informed health care decisions.

  13. Enjoy the new venue
    . Located in the heart of Philadelphia, our conference site  offers many amenities and is within walking distance to downtown dining, shop
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    ping and attractions, including Independence Hall and the Liberty Bell.  The clbcbellhonference offers great food, relaxation, opportunities to decompress, express yourself and play.
  14. Get fit, reclaim your health and well-being. Learn how you can make choices for a happier, healthier life. Sessions about exercise, nutrition, and integrative medicine provide information on living a healthy lifestyle. Improve your flexibility with yoga or try a heart-pumping Zumba workout. Attend the sexuality session or one of our “GirlsNight In” parties and reclaim your mojo.
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  15. Celebrate FORCE’s 15th Anniversary.  Help us blow out the candles and share birthday cake as we celebrate 15 years of fighting on behalf of the HBOC community.

A limited number of scholarships are available for those who would most benefit from attending but require financial support in order to participate. Visit our scholarship page to donate or apply.

See you in Philadelphia!

Patient-Centered Outcomes Research Institute (PCORI): Research Done Differently

What is PCORI?

The Patient-Centered Outcomes Research Institute (PCORI) is a new government-supported agency that approaches medical research with a focus on the patient to improve health outcomes. Aiming to answer medical questions that are most important to patients and collecting data from “real world settings,” this differs from traditional research, which typically occurs at large academic medical centers where scientists determine the research questions and priorities to be studied.

PCORI 101 is an easy-to-follow short video that outlines the institute’s research approach and goals.

Why was PCORI formed?

Hundreds of millions of dollars are poured into traditional research each year in the United States—research that is important to advance our knowledge of health and disease—but isn’t always focused on providing patients with the specific information they need to make medical decisions. PCORI was formed to change that. Like all research, PCORI-funded projects must be scientifically rigorous and conducted ethically. But PCORI’s patient-centered approach to resolving medical questions is unique, involving consumer input at every step:

  • formulating research questions
  • setting priorities
  • planning studies
  • collecting information
  • interpreting results
  • sharing findings

PCORI research focuses on answering four common patient questions:

  • Given my personal characteristics, conditions, and preferences, what should I expect will happen to me?
  • What are my options, and related potential benefits and harms?
  • What can I do to improve outcomes that are most important to me?
  • How can my health care providers help me make the best decisions about my health and healthcare?

How Can PCORI Research Help the HBOC Community?

Patient-Centered Outcomes Research (PCOR) is very important for the Hereditary Breast and Ovarian Cancer (HBOC) community. Individuals with BRCA mutations or other risk factors must make many important and difficult medical decisions. In the last two decades research has discovered important information about hereditary cancer risk and outcomes, but our message boards and forums are still filled with lingering questions for which we have no definitive answers, including:

  • What is the ideal age to remove my ovaries/tubes?
  • Is removing my uterus along with my ovaries and tubes beneficial, and if so, how?
  • What medical outcomes might I face after undergoing surgical menopause?
  • Will my health and quality of life be improved or harmed by taking hormone replacement after surgical menopause?
  • Is increased surveillance likely to find a cancer early enough to avoid chemotherapy?
  • Are certain treatments better for people with hereditary cancers? Is it in my best interest to avoid certain treatments?

Answers to questions like these can help people facing HBOC make informed decisions about their health care based on their personal health goals and priorities.

Government agencies such as the United States Preventive Services Task Force (USPSTF) have a strong influence on insurance coverage and patient access to preventive services. The USPSTF reviews traditional research evidence to set screening and prevention guidelines. It also considers Patient-Centered Outcomes Research information that includes people’s attitudes towards preventive medicine such as:

  • Does an increased chance of abnormal findings affect a person’s willingness to undergo more sensitive cancer screening tests such as MRI? Does the risk of increased biopsies outweigh the benefit of detecting cancer earlier and if so, for which patients?
  • Which prevention outcomes are most important to patients?
    • survival
    • avoiding chemotherapy or other debilitating treatment
    • quality of life
  • Are answers to these questions different for high-risk patients than average-risk patients?

Research on the HBOC community’s perspectives on medical services can guide agencies in setting policies that affect access to care.

How is FORCE Involved in Patient-Centered Outcomes Research?

Over the past 15 years, FORCE has organized and united the HBOC community to identify, highlight, and promote research on the health concerns and outcomes that matter to people affected by HBOC. As we have compiled the research that is known about these issues, we have also identified the limits of our knowledge. Through our forums, programs, and surveys we have collected public input on the concerns and information gaps that most impact access to care and medical decision-making. Through our collaborations and participation on task forces and guidelines panels we continue to advance research and promote policies that benefit our community.

Recently FORCE’s collaboration with researchers from the University of South Florida and the Michigan Department of Community Health received a funding award from PCORI that will enable a “patient-powered research network” called the American BRCA Outcomes and Utilization of Testing (ABOUT) Network. Our collaboration is one of 29 networks that were recently approved to participate in a new national resource through PCORI known as the National Patient-Centered Clinical Research Network (PCORnet). We were chosen primarily due to our commitment to gathering patient input and identifying important concerns, our work to unite the community, our dedication to sharing important research results back to the community, and our efforts to train and prepare community members who have no scientific background to provide input into research.

Over the next 18 months we will be engaging our members in the following ways:

  • recruiting members who are interested in completing advocacy training and participating in leadership roles to help us build the governance of the ABOUT Network.
  • soliciting community input to identify and prioritize important unanswered research questions
  • offering opportunities for people to enroll in the ABOUT Network to help accelerate Patient-Centered Outcomes Research
  • training people with no scientific background to participate in research advocacy through our FORCE Research Advocacy Training (FRAT) program. FRAT helps to prepare members of our community to become involved in all levels of research planning and implementation.

FORCE’s participation in the ABOUT Network will allow HBOC stakeholders a place at the table and an unprecedented voice in guiding PCOR research over the coming years. Stay tuned for more details soon.

Preventive Guidelines Discriminate Against Cancer Survivors

FORCE has created a change.org petition to ask the United States Preventive Services Task Force to change their guidelines to include cancer survivors. You can read more about the issue and the petition below.

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The United States Preventive Services Task Force (US

The panel wields considerable power over consumer access to preventive health care services—primary care clinicians and health systems follow its guidelines. And importantly, the guidelines are incorporated into the Patient Protection and Affordable Care Act (PPACA), which states that health plans must provide benefits without imposing cost-sharing (i.e., without a deductible or co-pay) for services that have a rating from the task force of “A” or “B.”PSTF) is a government-supported independent panel of experts that reviews and develops recommendations on select preventive health services. In the panel’s own words: “The USPSTF is committed to improving the health of all Americans. To achieve this, the USPSTF assesses evidence on specific populations and makes specific evidence-based recommendations for specific populations.

The USPSTF has reviewed several, but not all preventive services available to keep us healthy, so some gaps are unavoidable. (Read a list of USPSTF-reviewed services here.)

The panel does have guidelines for risk assessment and BRCA testing, which are now being updated. Revisions have been improved based on feedback and suggestions from many groups and health care professionals; the proposed update supports genetic counseling and testing with a “Grade B” in women who have a family history consistent with a mutation, requiring insurance companies to cover these preventive services without a co-pay or deductible. But as we have previously reported, serious gaps remain, including omission of:

  • men
  • risk assessment and Lynch Syndrome testing
  • letter grade assignment for screening and prevention for high-risk women

We will continue to post about these gaps in policy that affect our community’s access to care. This blog post highlights one particular aspect of the USPSTF draft guidelines on risk assessment and BRCA testing: the discrimination against cancer survivors.

Regarding its draft guidelines, the USPSTF states: “These recommendations apply to women who have not received a diagnosis of breast or ovarian cancer but who have family members with breast or ovarian cancer whose BRCA status is unknown. Women presenting to their primary care providers who have a relative with a known potentially harmful mutation in the BRCA1 or BRCA2 genes should receive genetic counseling and consideration for testing.

FORCE response to the USPSTF draft guidelines

In October of this year FORCE sent a letter to the USPSTF which included four key points about this gap:

  • We pointed out that cancer survivors with a BRCA mutation are at high risk for an unrelated second primary cancer, and could benefit from preventive aspects of BRCA testing.
  • We requested that the task force review the strong research evidence supporting genetic risk assessment for preventive purposes in women who have been already been diagnosed with breast cancer and meet national guidelines.
  • We emphasized how omission of survivors from these guidelines will negatively impact their access to care and coverage for preventive services under the PPACA.
  • We requested that women with a cancer diagnosis be included in the definition of “population under consideration.”

USPSTF response to FORCE

The USPSTF responded to our letter with this statement, “Although the Task Force recognizes the importance of the further evaluation women who have the diagnosis of breast or ovarian cancer, that assessment is part of disease management and is beyond the scope of this recommendation. The Task Force recognizes that genetic counseling and testing may be an important part of disease management for women who have been diagnosed. However, the Task Force’s mission is to determine the evidence-base for preventive services in the general population who have no signs or symptoms of disease.

I recognize that the USPSTF is focused on prevention only, and that any service that may come under the category of treatment is beyond their scope. And it is true that under some circumstances—particularly in women newly diagnosed with breast cancer—BRCA testing can affect treatment decisions, including the decision to have lumpectomy or unilateral mastectomy vs. bilateral mastectomy. However, the USPSTF response is missing a critical point: BRCA testing has preventive value beyond “disease management” and can help survivors prevent a new, completely unrelated second diagnosis of breast cancer. Experts still recommend genetic risk assessment for women whose personal and/or family medical history indicates a possible mutation even after they have completed their treatment for cancer and have no evidence of disease. These women meet the task force’s criteria of having no signs or symptoms of disease.

The USPSTF guidelines discriminate against cancer survivors

The USPSTF’s insistence to exclude survivors from these guidelines, despite research evidence to show the preventive value in testing people after cancer, amounts to discrimination against cancer survivors. The panel implies that once a person is diagnosed with cancer, all further health efforts fall under the category of treatment of the disease. By dismissing the preventive value of BRCA testing in this population they also dismiss the value of preventive services in cancer survivors in general, many of whom will go on to live long healthy lives if they are given access to appropriate preventive services.

My personal history is a perfect illustration. When I was first diagnosed with breast cancer, my health care providers failed to recognize that I had several red flags for a mutation. It wasn’t until after my unilateral mastectomy—when I read an article about BRCA testing—that I recognized I fit the guidelines for BRCA testing. I learned after my treatment that I had a BRCA 2 mutation; I was fortunate because a prophylactic mastectomy of my so-called healthy breast found early-stage cancer. During my BSO, abnormal cells were found in my abdominal wash, indicating that dangerous changes that could develop into cancer if left unaddressed were already underway. These surgeries were preventive in every sense of the word. The fact that I had already been diagnosed with breast cancer did not take away from the preventive benefit of BRCA testing for me. Now 15 years out from my preventive surgeries, I remain healthy and cancer-free. I am confident that the preventive steps I took have kept me from developing a second primary cancer.

Thousands of women like me who have completed treatment for cancer meet expert guidelines for risk assessment and BRCA testing, and also fit the USPSTF’s criteria of having “no signs or symptoms of disease.” Research evidence shows that genetic risk assessment and preventive action can lower their risk for a new primary cancer, detect it early, and lower their mortality. In many cases these women are the key to identifying a family mutation. As U.S. citizens, they are entitled to similar preventive services as people in the general population. Continued exclusion of this population discriminates against breast and ovarian cancer survivors and jeopardizes not just them, but also their healthy relatives.

The guidelines run counter to the spirit of the PPACA

As of January 2014—due to provisions in the PPACA – U.S. citizens with a pre-existing condition can no longer be denied or dropped from their health insurance plans. The stated goals of the PPACA are: “The most prevalent goal, however, and the one concept that is nearly universally accepted is the desire to improve the quality of care across the United States (U.S.) for all citizens until it meets the highest of standards.” It is ironic that at a time when the Patient Protection and Affordable Care Act is being implemented to eliminate pre-existing condition exclusions by insurance companies, the USPSTF task force is in effect adding back pre-existing status, and therefore barriers to cancer survivors’ access to preventive care.

What you can do

After several letters to the USPSTF, we have decided to appeal to the task force once more, focusing on the issues with the most supportive research evidence. We ask that you read and sign on to our counter-response letter, which we plan to submit by December 12. (Read more about the issues here). We ask you to share this letter with any cancer survivors, previvors, health care providers, caregivers, and everyone you know and ask them to sign on to the letter as well. This issue and the USPSTF actions to assure access to preventive services for all citizens effects us all. We will request a written response from the USPSTF and will share it with our community. We will continue to post about the gaps in policy that affect our community’s access to care.

To sign on to the letter, send an email to suefriedman@facingourrisk.org and include your full name, city, and state.

Meeting the Challenges to Hereditary Cancer Research

This week is National HBOC week and today is National Previvor Day; personally this season is marked by equal doses of reflection, recollection, gratitude, and action.

Much progress has been made in cancer research in the 15 years since I learned about my mutation and founded FORCE. Perhaps most exciting are the advances in “personalized medicine,” which looks at unique genetics traits of a subset of the general population to develop more tailored medical care. Personalized medicine research has given us new tools in the cancer fight, for example tumor tests like OncotypeDX, which looks at the unique biology of tumors to help predict which ones are most likely to recur and which patients would benefit most or least from additional treatment. New “targeted therapies” work by interacting with receptors and molecules found in certain cancer cells. They interfere with cell function causing the cancer cell to die. An example is Perjeta, which was just approved by the FDA to treat breast cancers that overexpress a marker called Her2neu.

Personalized medicine research has great potential for improving treatment, prevention and detection of hereditary cancers. HBOC cancers develop differently and behave differently than other cancers: they are younger-onset and more aggressive, there is a very high lifetime risk for one or more cancer diagnoses. And HBOC risk can be passed on to our children. Researchers are looking at the genes that make our cancers different to provide better ways to treat or prevent them. After years of advocacy, HBOC research is getting well-deserved attention. The observation by researchers that many hereditary ovarian cancers may actually develop in the fallopian tubes has led to the opening of a study looking at whether fallopian tube removal may be a safe and effective strategy for lowering risk in women with BRCA mutations who are not ready to remove their ovaries. Another notable example, PARP inhibitors are targeted drugs designed to treat cancers caused by BRCA mutations.

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FORCE featured research highlights studies of particular interest to the HBOC community.

Clinical trials such as the BROCADE Study and ARIEL Studies and others are looking at whether PARP inhibitors may work better than standard care for breast, ovarian and other cancers. We need these studies to be completed before these agents can be made widely available, but researchers report that study participants are still desperately needed.

Over the years our research surveys have shown that our community:

  • wants better, less invasive, more effective options for detecting, preventing and treating hereditary cancers.
  • understands that these options require clinical trial research in order to advance.
  • is very motivated and willing to participate in the studies that can benefit us now and in the future.

So what is delaying progress? I recently gave a presentation about the challenges of recruiting the HBOC community for clinical trials, which gave me the opportunity to explore and define some of the barriers to filling these studies.

  • There is still a limited awareness about HBOC. Many people who meet expert guidelines are not being referred for genetics evaluation and testing.
  • Many more cancer clinical trials are open to people regardless of mutation status than clinical trials specifically for people with mutations. For that reason, HBOC studies compete for patients with larger, more numerous, less specific research studies.
  • Health care providers are often unaware of HBOC-specific research studies at different institutions or hospitals, or are hesitant to refer patients to them.
  • Some clinical trials require patients to meet certain conditions, including limiting the type or number of prior treatments a patient can receive before enrolling. Patients who are not aware of clinical trial options before starting treatment or resuming treatment after a recurrence may be ineligible for study participation.
  • Many individuals’ interest in clinical trial participation is limited by their concerns about safety, medical care, use of placebos, cost, and their ability to withdraw from a study.
  • Finding open research studies, figuring out eligibility, and determining how to enroll can be challenging and time-consuming. Even websites that are created to simplify the process can be difficult to navigate.
  • Some studies require travel to another hospital, city, or state to participate, and require patients to consult with a new team of doctors, creating additional costs and time away from work and home.

Despite the challenges, these studies are essential and the investment in HBOC research is clearly worthwhile. The good news is that identifying these challenges can help us begin to address them and move the needle in favor of study enrollment and completion. FORCE is focusing efforts on overcoming these barriers. Below are some of the ways we are already tackling these issues. 

  • Raising public awareness about national expert guidelines on cancer risk assessment and genetic testing
  • Uniting and educating stakeholders to advocate for more resources and research specific to HBOC
  • Educating the community about the importance of participating in HBOC-specific research
  • Empowering patients to proactively seek out or ask their oncologist about clinical trials
  • Providing training to consumers affected by HBOC to participate in panels, research peer review and advisory boards to represent community perspective in setting research priorities and developing and conducting research studies
  • Informing people about new and promising targeted agents and HBOC-specific research opportunities
  • Working with researchers and industry partners to develop and distribute patient-friendly websites and materials that can be shared with the HBOC community
  • Educating health care providers about the challenges facing the HBOC community; our urgent need for new and better treatment, detection, and prevention options; and how they can help us with our efforts to improve HBOC research enrollment
  • Educating health care providers about open clinical trials enrolling people with HBOC
  • Educating policymakers and regulatory agencies about the challenges facing the HBOC community, and our need for expedited drug development, research, and approval

Over the next few months, I will be blogging in more depth about each of these barriers and strategies for addressing them. FORCE will be working to better assess the issues and create new programs so that we can make a positive impact on HBOC research participation. To learn more about how you can help advance HBOC research, visit the FORCE website for updates. To find research on cancer prevention, detection, treatment, quality-of-life and other studies visit the featured studies section and other studies section of our website or visit the clinicaltrials.gov website.

Fear, Bravery and HBOC

Screen Shot 2014-01-05 at 8.30.20 PMRecently the topics of BRCA and bravery have been in the news. Previvor Angelina Jolie made headlines when she announced that she carries a BRCA1 mutation and underwent prophylactic bilateral mastectomies. Singer Melissa Etheridge, a BRCA2 mutation carrier and a breast cancer survivor, labeled Jolie’s choice of BPM as “fearful” rather than “brave.” Personally, I don’t think that bravery and fear are mutually exclusive.

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Fear is a powerful motivator. It is an adaptive and natural reaction to threats to our lives and well-being that can lead us to make choices that improve our survival or quality-of-life. Fear of cancer may not be the only fear on which we base decisions. Fear comes in many varieties: fear of chemotherapy or radiation, fear of life-altering or image-altering surgeries, fear of leaving our children parentless, fear of passing on a mutation, fear of medical debt, fear of a recurrence, etc.  Each of these fears are valid and may impact our personal health care decisions. Fear does not make our actions any less brave and it doesn’t mean these decisions are rash or uninformed. Fear can be balanced with information, empowerment, action, and even competing fears.

Bravery evokes images of heroic people sacrificing their lives for others, but there are other examples of bravery. Like so many women in our community, Angelina Jolie cites concern for her children as a reason for being proactive with her medical care. Putting the needs of others above our own requires courage. Several members have expressed that they didn’t feel particularly brave in facing their cancer risk. Although I can relate to their feelings, I would argue that the HBOC community includes some of the bravest role models I have ever met.

Most of my life I have never felt that brave, and bravery was never a description that I ever used to define myself. I was bullied in school, and I didn’t stand up for myself. Instead I shrank from confrontation.

When I was first diagnosed with breast cancer, and later when it recurred at age 34, I was terrified. I thought the rest of my life would be short, and given my prognosis I was afraid my 2-year-old son would grow up without a mom, like I did. So I did what I felt was necessary to improve my chances of survival: I left my busy veterinary practice to move to Houston for treatment at MD Anderson, one of the top cancer centers. My husband called me brave as he dropped me off for my appointment for a second opinion. I may have appeared resolute, but inside I was trembling. He confessed later when he picked me up that he would have fainted from terror walking through the imposing doors of the cancer center.

While on sabbatical for treatment, many of my clients called or wrote to wish me well. They sent their prayers and good wishes, and many told me they thought I was brave. I didn’t feel I had earned any badges for valor. I was simply doing what my doctors recommended. From the time of my recurrence until I finished treatment, on any given day it was a struggle between getting up and facing the day or hiding under the covers paralyzed with fear. I didn’t feel brave, but hearing the word from others was like a shot of courage, a mantra that sustained me.

As members of the HBOC community, we face many difficult challenges and decisions. Courage comes in many forms. Whether it’s proceeding with genetic counseling and testing, telling relatives about the mutation in the family, going to a high-risk clinic for an MRI, facing cancer treatment, entering a clinical trial for an investigational drug, waiting for test results, receiving that first chemotherapy, undergoing the last fill, or sharing with the world in a very public manner about personal medical choices in order to raise awareness; every circumstance we face requires grit and determination. Even the recommendations for which we feel we have no reasonable alternative still require us to move forward, schedule the appointment, and show up. Why shouldn’t we accept the positive labels? We might not feel we have earned them, but maybe we can gain strength from them.

Life is hard enough. And for people with inherited cancer risk, it is even more so. It is already difficult to face the criticism and lack of understanding from uninformed people. It is even harder when criticism comes from public figures and receives wide media attention. Uniting our community through FORCE demonstrates how much lighter our burden can be when we share and support one another.

We shouldn’t be ashamed of our feelings. Bravery is not the absence of fear. Acknowledging our fears and adding them into the medical equation is a reasonable approach to decision making. You don’t have to feel brave to be brave. Sometimes courage means just putting one foot in front of the other to meet your destiny. Your example of fortitude may be the inspiration others need to continue their own journey in a positive direction.

Thoughts on Turning 50: Recovery

The first time I met with my running coach, she had me run a quarter mile as fast as I could. As I neared the finish, I remember feeling like I was drowning. As soon as I finished she had me slow to a jog without stopping and timed me as I continued this very easy pace until I caught my breath, recovered, and was able to run again. She calculated my pace and how long it took me to recover and explained how this was different for everyone. This was an important lesson for me. Part of my marathon training involves pushing the envelope with speed and effort for as long as I can, followed by several minutes of recovery. Similarly, there is another aspect to recovery. As I push myself to improve my stamina and strength, on some days I’m too sore or exhausted to train. I have learned that taking a break for a day to allow my body and my muscles to recover is essential.

The training experience reminded me that recovery is a necessary part of every effort.

Emotionally, recovery works best if you budget time for it beforehand. So many of us push ourselves to re-enter life after treatment or surgery. We often compare our progress with that of others, even though each of our situations is unique. We often aren’t patient enough with our bodies to grant ourselves time to recover before we try to go back to work, assume normal responsibilities, or exercise. Countless times I have heard people in our community say, “I was healing well from surgery but today I did 2 hours of yard work (or Zumba, work, fill-in-the-blank), and today I have swelling (or pain, fatigue, fill-in-the-blank).”

The concept of recovery is not new to me.

When cancer recurred to my lymph nodes after my mastectomy, I traveled to an out-of-state cancer center for care. I left my veterinary practice and life-in-progress to do what I thought would be best for my family and me. I underwent chemotherapy, radiation, genetic testing, abdominal BSO/hysterectomy, and prophylactic mastectomy.

During my treatment I was away from home and received many cards and letters from well-wisher friends, colleagues, and clients (and even a few from their pets). One card from a friend became my favorite: on the outside was an illustration of an idyllic country path, and inside it read: “The road will remain as you stop to remove the stone from your shoe.” I tried to keep this as my mantra throughout my treatment and recovery but it wasn’t always easy. Anxious about mounting medical bills after my 9-month leave of absence, I returned to my veterinary practice soon after returning home to Florida; my first day back on the job was only 9 short weeks after completing treatment and my abdominal surgeries. Even though I had a light load at the animal hospital, I remember sliding to the floor in an exhausted heap during lunch and saying, “I can’t do this.” I felt defeated. Yet by a month later, I was able to handle the work load. I could have saved myself emotional and physical frustration and pain if I had taken into account all that I had just gone through physically and emotionally and just given myself the time I needed to recover adequately.

So many times I see posts on our message boards or meet people at support group meetings with questions about recovery time. Most women want to know when they will get back to normal. Many people base their decisions regarding prevention and treatment on these questions, understandably trying to minimize recovery time by even a couple of weeks or days. In the big scheme of things, I have found that allowing for more recovery time up front can prevent an extended absence that becomes required to deal with a complication arising from doing too much, too soon.

Even 15 years later, I sometimes need a literal reminder of the important lesson from my friend’s card. Between my overwhelming work schedule, other obligations, my family, and the rainy season, marathon training doesn’t always take high priority. On the days when I am able to train, I don’t like to cut my training short or miss even one single training mile.  The path I run is paved with river rocks, and once in a while I do get a stone in my shoe. On a particularly busy day when I was running after three days without training, the sky was overcast and threatened rain. I had pressured myself to run 9 miles for this workout. At the 8-mile mark, I felt a pebble in my shoe. I resisted stopping, because once I do, I always have a hard time restarting. It was a small pebble, I reasoned, and although I felt it, it didn’t hurt, and I was so close to finishing; I ran the remaining mile with the stone in my shoe.

No surprise that the resulting blister left me out of commission for three more days.

It’s not always easy to be patient or kind to ourselves, but no matter what the situation— surgery, illness, treatment, complication, grieving the loss of a loved one, or even training for a marathon—we need to give ourselves sufficient permission and time to recover both physically and emotionally to continue our journey and arrive at each milestone and tackle each challenge in our best possible shape.