Tuesday, February 23, 2010

Fact vs. Fiction: Myriad’s Response to the Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS)

On January 15, 2010, Gregory Critchfield, MD, MS, president of Myriad Genetic Laboratories, Inc., wrote a letter to the SACGHS in response to statements made by Lisa Schlager on behalf of the advocacy organization, FORCE at an October 9, 2009 SACGHS meeting. However, several statements in their response letter misrepresent much of the available data as illustrated below:

Myriad Statement:

Community physicians can capably perform genetic counseling and deliver genetic services to patients in their practice.


As evidence supporting this statement, Myriad cites a single study published by Keating et al in 2008.1 However, Myriad distributed the surveys for this study and included a $20 prepaid cash incentive with each survey.1 Myriad fails to mention that physicians in this study were frequently assisted by genetic counselors, nurse geneticists, or other counselors in providing genetic counseling.1 They also fail to mention that physicians who were assisted by these other providers were more likely to provide appropriate counseling (i.e. discuss all six recommended counseling items).1 Myriad also overlooks the bulk of data from multiple studies indicating that most providers lack the time, knowledge, and/or awareness of pertinent issues to provide adequate genetic counseling.2,3,4,5

Myriad Statement:

Myriad defends its policy of encouraging doctors to provide genetic counseling in part due to a shortage of genetics experts.


Much of the evidence for the potential shortage of genetics experts is anecdotal and there has been very little focus on obtaining more data about this potential shortage, the reasons for this shortage, and ways of increasing the number of certified genetic counselors.3,6 In addition, the major Myriad advertising campaigns to date have been in large, urban areas with adequate numbers of genetics professionals. Myriad fails to mention that in areas where access to certified genetic counselors may be a concern, there are options for accessing genetic counseling by genetics professionals via satellite clinics and phone- and/or internet-based telemedicine services (www.informeddna.com ) and that several major health insurance companies now cover these services.6,7,8

Myriad Statement:

Myriad states that they provide physician awareness and education prior to their DTC advertising campaigns “in order that physicians be knowledgeable and can respond to inquiries that may come from their patients”.


Myriad cites a study published in 2004 which evaluated one of their DTC marketing campaigns as evidence that their campaigns did not result in adverse events or inappropriate counseling or testing. However, they do not indicate that this study found that providers in the cities where they performed physician awareness and education did not have better knowledge than those in comparison cities (where no physician awareness or education was performed) or that providers in all of the cities often lacked the knowledge to provide adequate genetic counseling and testing for hereditary breast and ovarian cancer.9

Myriad Statement:

Myriad implies that genetic testing and the marketing of genetic testing is subject to significant governmental regulation as well as intensive insurance scrutiny.


Although several government agencies have the authority to regulate laboratories that perform genetic tests as well as their advertising claims, many experts and professional organizations agree that the current regulations are limited and insufficient and thus they have called for additional oversight.10,11,12,13

Myriad Statement:

Myriad indicates that it is their “belief and experience that the frequency of these kinds of unfortunate problems [patients receiving incorrect or inadequate genetic counseling and testing] is extremely rare as Myriad and many other organizations work to provide the highest quality service for patients”.


Cancer genetic counseling centers nationwide and national patient advocacy groups report an increasing number of these adverse events (Matloff, unpublished data). Again, Myriad fails to acknowledge that most existing data shows that many providers lack the knowledge to provide adequate genetic counseling2,3,4 and that in a study of genetic testing for hereditary colon cancer, providers misinterpreted test results in about a third of cases in a way that could lead to serious clinical errors.14 In addition, several insurers have changed their preauthorization policies for Myriad’s tests due to concerns about inappropriate or incorrect genetic counseling and testing and their belief that their members and providers will benefit from having access to certified genetic counselors.15

Myriad Statement:

Myriad encourages physicians to refer “complex cases” to genetics experts.


Myriad does not give any information regarding the how they define “complex cases”. Many experts would agree that it may be difficult for a provider to determine which cases are “complex” and need referral to a genetics specialist, particularly when the provider’s knowledge of genetics is limited.3 In addition, the majority of patients who pursue genetic testing receive negative test results but these cases are also often the most complex in terms of result interpretation, recommendations for further genetic testing for the patient and/or family members, and medical management recommendations.


1. Keating NL et al. Physicians’ experiences with BRCA1/2 testing in community settings. J of Clinical Oncology 2008;26:5789-96.

2. Doksum T, Bernhardt BA, and Holtzman NA. Does knowledge about the genetics of breast cancer differ between nongeneticist physicians who do or do not discuss or order BRCA testing? Genetics in Medicine 2003; 5(2):99-105.

3. Greendale K and Pyeritz RE. Empowering primary care health professionals in medical genetics: How soon? How fast? How far? Am J Med Genet 2001;106:223-232.

4. Wideroff L et al. Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians. J Med Genet 2005; 42:749-755.

5. O’Neill SC et al. Primary care providers’ willingness to recommend BRCA1/2 testing to adolescents. Familial Cancer 2009.

6. Rosenthal ET. Shortage of genetics counselors may be anecdotal, but need is real. Oncology Times 2007;29(19):34,36.

7. Informed Medical Decisions. Adult Genetics: Genetic counseling for your health concerns. Available at: http://www.informeddna.com/index.php/patients/adult-genetics.html . Retrieved August 24, 2009.

8. Informed Medical Decisions. News: Aetna Press Release: Aetna to offer access to confidential telephonic cancer genetic counseling to health plan members. Available at: http://www.informeddna.com/images/stories/news_articles/aetna%20press%20release%20bw.pdf . Retrieved August 24, 2009.

9. Centers for Disease Control. Genetic testing for breast and ovarian cancer susceptibility: Evaluating direct-to-consumer marketing--- Atlanta, Denver, Raleigh-Durham, and Seattle, 2003. Morbidity and Mortality Weekly Report 2004; 53(27):603-606.

10. Javitt GH and Hudson K. Federal Neglect: Regulation of Genetic Testing. Issues in Science and Technology 2006; 22(3):59-66.

11. Gollust SE, Hull SC, and Wilfond BS. Limitations of direct-to-consumer advertising for clinical genetic testing. JAMA 2002; 288(14):1762-1767.

12. Gray S and Olopade OI. Direct-to-Consumer Marketing of Genetic Tests for Cancer: Buyer Beware. JCO 2003; 21(17):3191-3193.

13. Robson ME et al. American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility. J of Clinical Oncology 2010; 28(5):893-901.

14. Giardiello FM et al. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. The New England Journal of Medicine 1997; 336(12):823-827.

15. Ray T. Myriad defends policy of urging docs to genetically counsel BRCAnalysis customers. Pharmacogenomics Reporter. Available at: http://www.genomeweb.com/dxpgx/myriad-defends-policy-urging-docs-genetically-counsel-bracanalysis-customers?page=show . Retrieved February 11, 2010.