Increasingly, physicians and patients face dilemmas of whether to exclude genetic information from medical charts, posing critical challenges for practice, research, policy, and education. Physicians and patients are obtaining more genetic information, yet medical records are rapidly becoming electronic, threatening confidentiality. Tensions thus arise between potential medical benefits vs social risks of including information. Use of genetic testing is rapidly increasing through clinicians and direct-to-consumer marketing. Direct-to-consumer tests may be definitive or show only slightly increased disease probabilities, but with advances may have increasing clinical utility. Several institutions have also discussed including whole genome data in medical records. Genetic discrimination has occurred with α1-antitrypsin deficiency, Huntington disease, and other mutations,1 although the extent remains unclear,2 partly because such discrimination can be subtle or difficult to prove. Patients may be passed over for promotion or marginalized, but not fired.3
The Health Insurance Portability and Accountability Act (HIPAA) protects medical information in certain contexts and the 2008 Genetic Information Nondiscrimination Act (GINA) protects genetic test results in the absence of symptoms, but these laws do not prevent discrimination in many realms (eg, life, disability, or long-term care insurance). Many patient advocates are concerned that under GINA, discriminating against patients and paying fines may cost companies less than covering them—as racial, sex, and age discrimination continue, despite legislation. Federal health care reforms of 2010 should broaden coverage of preexisting conditions but have yet to be implemented, and advocates are concerned that reforms might simply raise premiums.