Statement in Support of Genetic Information Nondiscrimination

As an organization of physicians who care for desperately ill patients and scientists devoted to understanding the basic mechanisms of disease and discovering new therapies, the American Society of Hematology (ASH) is excited about the scientific potential of human genome research but is concerned that the determination of an individual’s genetic information could lead to discriminatory practices, particularly on the part of health insurers and employers.

Background

Now that a detailed draft of the human genome is complete, research is focusing on the function of each gene, the role that genetic mutations play in causing disease, and the role of subtle genetic differences (polymorphisms) among individuals in determining risk of developing common diseases. This new paradigm will lead to improved diagnosis of diseases and new approaches to disease prevention and therapy, including the selection of the best and most economical therapy for each individual patient. With these advances, the genetic testing of individuals is becoming more commonplace and useful for patients and their physicians.

Genetic testing can be predictive, discovering whether an individual has an inherited predisposition to a certain disease before symptoms appear. In addition, genetic tests can help physicians determine specific diagnoses in patients with certain symptoms. Tests can also determine whether a person is a carrier for the disease; although carriers won't get the disease, they can pass on the faulty gene to their children. Prenatal testing can help expectant parents know whether their unborn child will have a genetic disease or disorder. Newborn screening tests infants for abnormal or missing gene products.

Individuals in families at high risk for a disease obviously have no control over their genetic makeup, yet live with troubling uncertainties about their own future as well as their children’s prospects. A negative test—especially one that is strongly predictive—can provide an enormous sense of relief. On the other hand, while a positive test can provide important information about risk, it can also produce tremendous anxiety. In the best circumstances, a positive test enables the individual to take steps to reduce risk; these steps could include regular screening for the disease or lifestyle changes, such as a change in diet or regular exercise. A positive test can relieve uncertainty, and can enable people to make informed decisions about their future. Much of the anxiety of genetic testing comes from uncertainty about the likelihood of developing a symptomatic disease in the future, but part of the unease also comes from concern about the impact of the information on health insurance and employment.

ASH Policy

ASH believes that clear guidelines need to be established to protect individuals and their genetic information. Current federal and state regulations offer little or no confidentiality or privacy to individuals who are investigating their genetic makeup. Health insurers, employers, and other entities must be forbidden from disclosing an individual’s genetic information for any purpose or using this information to determine insurance coverage, premium rates, employment eligibility, or compensation. Moreover, insurers and employers should be restricted from requesting or requiring individuals to receive genetic testing to meet the criteria for insurance or employment.

New federal regulations should relieve the fear of genetic information discrimination and prohibit such discrimination in employment and health insurance decisions. Total patient confidentiality of genetic information should be held to the highest level of scrutiny. The uncertainty and fear about potential discrimination also threatens the research enterprise as individuals may become reluctant to agree to participate in genetic research projects. All health information privacy regulations should be applied to the use and disclosure of an individual’s genetic information.

Advances in genetic science are a promising step for patients and genetic counseling, screening, and testing should be made available in a confidential and non-discriminatory manner. The Society encourages the further development of genetic science to ensure that patients and their physicians have the modern medical tools to fight disease. Furthermore, ASH strongly supports the creation of a culture where screening for and counseling regarding genetic information is confidential and free of discrimination.

Founded in 1958, ASH represents nearly 13,000 clinicians and scientists committed to the study and treatment of blood and blood-related diseases. These diseases encompass malignant hematologic disorders such as leukemia, lymphoma, and myeloma; and non-malignant conditions including anemia and hemophilia; and congenital disorders such as sickle cell anemia and thalassemia. In addition, hematologists have been pioneers in the fields of bone marrow transplantation, gene therapy, and many drugs for the prevention and treatment of heart attacks and strokes.