Ethical Responsbilities After GINA

October 25, 2008

Commentary by Antonella Surbone, MD PhD FACP, Ethics Section Editor

The Genetic Information Nondiscrimination Act (GINA), passed by the US Congress on May 1st 2008, protects individuals against discrimination by health insurers and employers on the basis of genetic information.(1-4) Genetic information refers to genetic tests of a person’s or a family member up to fourth-degree relatives. Genetic test is any analysis to detect genotypes, genetic mutations or chromosomal changes, not including analysis of proteins or metabolites directly related to a manifested disease. Genetic information also refers to any manifestation of disease or disorder in a family member, and/or to the participation of a person or family member in research that involves genetic testing, counseling or education. GINA does not regulate insurance under-writing based on a person’s current health status, does not mandate coverage for any particular test or treatment, and does not cover life, disability or long-term care insurance. (2,5) Finally, GINA does not interfere with health professionals’ recommendations for genetic testing to their patients. (2, 4)

Among common genetic tests protected by GINA are tests for BRCA 1 and BRCA 2 mutations and HNPCC mutations that predispose to an increased risk of breast, ovarian, colon and other cancers, as well as tests that help classify the genetic profile of an existing cancer. The bill is thus especially relevant to the field of oncology, as until recently many patients have refrained from undergoing genetic testing for fear of discrimination. This, in turn, has limited individuals’ access to information that may have benefited them in terms of cancer prevention or early diagnosis and treatment, and it has also hampered the conduct of research studies on the biology and treatment of cancers associated with specific genetic mutations. (2) For example, as the availability of BRCA testing increased and knowledge about prevention and management in mutation carriers improved, many at risk refrained from being tested, due to fear of discrimination by health insurance or by actual or potential employers. [6] Similar concerns were also reported among genetic experts and oncologists. [7]

Notorious cases of genetic discrimination have occurred in the past in the US with regard to life and health insurance, the employment market, and in access to higher education and adoption. Measuring the real magnitude of genetic discrimination is an arduous task, yet recent cases have been documented. [8,9] Mutations carriers can also be subject to more subtle forms of discrimination in their microenvironment. [10] A BRCA positive patient told me she was equally worried about passing onto her daughters the risk of cancer, and of their being exposed to discrimination because of her diagnosis. “With good laws, she said, my daughters may find great jobs, but they may still not be seen as ideal spouses or mothers.”
While some authors have pointed out that society’s concern for genetic discrimination may have been excessive , the awareness of such risk led to the active engagement of medical and patient organizations, which contributed to the development of anti-discrimination legislation in the US and other countries. [2,11] GINA is, in large part, the result of the anticipatory work of researchers and clinicians involved in the development of the Human Genome Project who started voicing their concerns about the risk of genetic discrimination at the outset of the project. [8, 12-14] With GINA, patients’ fear of genetic discrimination will be substantially lowered.

As the piece by Dr. Chander stresses, several aspects of GINA remain to be evaluated in future years, when we will be able to verify its effectiveness not only in protecting mutation carriers, but also in making health care more just for all. For example, the European experience with antidiscrimination legislation seems to have been less effective than expected against the use of genetic information in insurance practice. It has been suggested that, due to lack of clear definitions of terms and boundaries between genetic and non genetic tests and data, some legislation may have “provided only the illusion of protection.” [15] Also, the European legislation may have afforded legal protection of genetic risks while leaving non genetic risks under-protected, with a special disadvantage for lifestyle risks. [15]

From an ethical point of view, GINA is a most important result of many years of antidiscrimination work supported by scientists, clinicians, patient advocates and policy makers. Yet, the ultimate response to discrimination involves deep cultural changes, beyond legal and regulatory issues, to foster a non discriminatory approach to illness and disability based on understanding and acceptance of all form of diversity. [16-18] With the recent introduction of direct-to-consumer genetic testing, which includes proven and still unproven genetic markers for common multifactorial diseases, comes a new wave of concerns regarding the untoward medical, psychosocial and ethical consequences of for-profit genomic profiling. [19-22] As we approach the era of personalized medicine based on genomic profiles, we must continue to assure the safety, reliability and clinical value of all genetic tests offered, and to debate ethical issues, such as genetic privacy and genetic responsibility, through a balanced, non determinist, view of genetic information. Genetic knowledge, in fact, can be perceived either as a means to enhance control of persons’ lives or as a sign of predestination written in a mysterious “future diary.” [5, 18, 23] In the end, as Dr. Billings wrote in August 2008, “antidiscrimination laws are only effective as guideposts to better understanding and tolerance.” [17]

REFERENCES

1. Bill H.R. 493 at http://thomas.loc.gov
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3. Hampton T. Congress passes bill to ban discrimination based on individuals’ genetic makeup. JAMA 2008; 299: 2493.
4. Honey K. GINA: making it safe to know what’s in your genes. J Clin Invest 2008; 118: 2369.
5. Annas GJ, Roche P, Green RC. GINA, genism and civil rights. Bioethics 2008; 22: ii-iv.
6. Harmon A. Insurance fears lead many to shun DNA tests. The New York Times, February 24, 2008.
7. Matloff ET, Shappell H, Brierley K et al. What would you do? Specialists’ perspectives on cancer genetic testing, prophylactic surgery, and insurance discrimination. J Clin Oncol. 2000; 18:2484-92
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Genetic Testing. Am J Hum Genet 1992: 40: 476-482.
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11. American Society of Clinical Oncology. Statement of the American Society of Clinical Oncology: Genetic Testing for Cancer Susceptibility. J Clinic Oncol 1996; 14: 1730-1736.
12. Natowicz MR, Alper JK, Aper JS. Genetic discrimination and the law. Am J Hum Genet 1992; 50: 465-475.
13. Ostrer H, Allen W, Crandall LA et al. Insurance and genetic testing: where are we now? Am J Hum Genet 1993; 52: 565-577.
14. Hudson KL, Rothenberg KH, Andrews LB, Kahn MJ, Collins FS. Genetic discrimination and health insurance: an urgent need for reform. Science 1995; 270: 391-393.
15. Van Hoyweghen I, Horstman K. European practices of genetic information and insurance. Lessons for the Genetic Information Nondiscrimination Act. JAMA 2008; 300: 326-327.
16. Wolf S. Beyond Genetic discrimination: Toward the Broader Harm of Geneticism. J Law, Med & Ethics 1995; 23: 345-353.
17. Billings PR. Beyond GINA. Nat Med 2008; 14: 806.
18. Surbone A. Balance between science and morality. In Controversies in genetic testing predisposition for breast and ovarian cancer screening. (Paradiso A, Muggia F, Surbone A eds) Ann Oncol 2004; 15 (Suppl): i60-i64.
19. American College of Medical Genetics. ACMG statement on direct-to-consumer genetic testing. April 7, 2008. Available at www.acmg.net
20. Offit K. Genomic profiles for disease risk. Predictive or premature? JAMA 2008; 299: 1353-1355.
21. Hunter DJ, Khoury MJ, Drazen JM. Letting the genome out of the bottle-will we get our wish? NEJM 2008; 358: 105-107.
22. Kuehn BM. Risks and benefits of direct-to-consumer genetic testing remain unclear. JAMA 2008; 300: 1503-1505.
23. Murray TH. Genetic Exceptionalism And Future Diaries: Is Genetic Information Different Form Other Medical Information? In Genetic Secrets: Protecting Privacy And Confidentiality In The Genetic Era. Rothstein MA (Ed) Yale, CT: Yale University Press, 1997.

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