Improving access to genetic testing: involving a genetic counselor can help

I applaud the recent attention given to hereditary cancer, including Jessica Queller’s outstanding book, Pretty Is What Changes; Joanna Rudnick’s upcoming BRACumentary, In the Family; and Christina Applegate’s announcement of her BRCA status. Increasing BRCA awareness encourages people to educate themselves about the topic, and subsequently more people are considering genetic testing. Unfortunately, their initial inquiries about testing are not always met with credible information.

Calls to our tollfree helpline increase in direct proportion to media reports about BRCA. Consequently we are experiencing more requests about  financial assistance for genetic testing. Many of these calls are from individuals who have a family history of breast cancer and health insurance, but their insurance has denied covering genetic testing.

Ideally, people can often avoid insurance denials and high out-of-pocket costs related to testing by first meeting with a qualified expert in cancer genetics. When you consider the $3,000+ cost for “full-sequencing” BRCA 1 and BRCA 2 testing, where the entire gene is evaluated, it’s easy to understand why genetic testing is beyond the means of many people. However, under certain circumstances, a less extensive test may be more appropriate and can lower the price of testing by thousands of dollars. In other cases the choice of which member of the family receives genetic testing first can also affect cost and insurance coverage. Too often these helpline calls stem from an uninformed health care provider ordering the wrong test or not identifying the best first person in a family to receive testing.

A specially trained genetics expert will first assess an individual’s family medical history, determine which test is most appropriate, and identify which family member should be tested first. Seeing a health care provider specifically trained in cancer genetics—a genetic counselor—prior to genetic testing often makes the difference between having a test denied or covered by insurance. In fact, for people who meet specific National Comprehensive Cancer Network (NCCN) standard-of-care guidelines, many insurance companies, and even Medicare, will often pay for both genetic counseling and testing.

Until the cost of genetic testing goes down, for the uninsured, genetic testing usually remains out of reach, even for those who meet standard-of-care guidelines. Financial support is available, but limited. People who meet certain criteria and have annual income below the poverty level may qualify for testing under Myriad Genetics Laboratories financial assistance program. Another resource, the small nonprofit National Gene Test Fund, underwrites the cost for eligible people who can’t otherwise afford testing. Research studies involving genetic testing may also be an option for eligible individuals, although these studies are few and it may take months to get results. FORCE is compiling a searchable national database of medical facilities that offer free genetic counseling, testing and other services to individuals without insurance or whose insurance won’t cover the cost. If you work at such a facility, please register your resource here.

While the resources above are critical, they are not broad enough to reach most individuals who cannot access or afford genetic counseling and testing. Studies show that Hispanic, Black, and Asian Americans—people who are frequently medically underserved—are less likely than Caucasians to receive genetic counseling and testing.

And for the fortunate few who receive assistance for genetic counseling and testing, what then? Experts recommend annual mammograms and MRI for BRCA-positive women ideally beginning at age 25. What if women can’t pay for standard-of-care surveillance? One resource, the National Breast and Cervical Cancer Early Detection Program, provides free mammograms for women over 40. As limited as the financial assistance resources are for genetic testing, even fewer provide MRI for high-risk women at any age or for mammograms beginning at 25. Like most disparity issues in health care, the needs are many and existing resources are few. 

With these funding gaps in mind, I was ecstatic to hear that Christina Applegate intends to establish a foundation to provide financial assistance for genetic testing and MRI screening for high-risk women. Hopefully this will help close the disparity gap by improving access to genetic experts and standard-of-care surveillance for medically underserved high-risk women.

In the documentary, In The Family (which will air on PBS on October 1), producer and previvor Joanna Rudnick pointedly questions the high price tag on genetic testing. Discussions like this are an important step in order to address disparities in access to genetic technology.

Until the disparity and cost of testing issues are addressed, given that genetic testing is expensive, financial resources are limited, and not everyone has equal access to care, the best way to maximize the number of appropriate tests for both insured and underinsured people, is to involve genetic counseling with board-certified experts prior to the ordering of genetic tests.  

Visit the FORCE website to find a genetics expert near you and learn more about available financial assistance for genetic testing.

4 thoughts on “Improving access to genetic testing: involving a genetic counselor can help

  1. Jere is a link to a new journal article which also delves into some of the issues with Myriad and BRCA testing.

    Interesting article. You have to pay but for some it’s worth the price!

    Here is the abstract:

    Direct to Confusion: Lessons Learned from Marketing BRCA Testing
    The American Journal of Bioethics, Volume 8, Issue 6 June 2008 , pages 5 – 8

    Ellen Matloff, Arthur Caplan

    Myriad Genetics holds a patent on testing for the hereditary breast and ovarian cancer genes, BRCA1 and BRCA2, and therefore has a forced monopoly on this critical genetic test. Myriad launched a Direct-to-Consumer (DTC) marketing campaign in the Northeast United States in September 2007 and plans to expand that campaign to Florida and Texas in 2008. The ethics of Myriad’s patent, forced monopoly and DTC campaign will be reviewed, as well as the impact of this situation on patient access and care, physician liability, and the future of DTC campaigns for genetic testing.

  2. If you’d like a reprint of the Am J Bioethics office, feel free to contact our office @ 203 764 8400 and leave your name and mailing address, and we can send you a free copy.

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