Robert Klitzman

Decision-Making About Reproductive Choices Among Individuals At-Risk for Huntington's Disease

We explored how individuals at-risk for HD who have or have not been tested make reproductive decisions and what factors are involved. We interviewed 21 individuals (8 with and 4 without the mutation, and 9 un-tested) in-depth for 2 hours each. At-risk individuals faced a difficult series of dilemmas of whether to: get pregnant and deliver, have fetal testing, have pre-implantation genetic diagnosis, adopt, or have no children. These individuals weighed competing desires and concerns: their own desires vs. those of spouses vs. broader moral concerns (e.g., to end the disease; and/or follow dictates against abortion) vs. perceptions of the interests of current or future offspring. Quandaries arose of how much and to whom to feel responsible. Some changed their perspectives over time (e.g., first “gambling,” then being more cautious). These data have critical implications for genetic counselors and other health care workers and future research, particularly as more genetic tests become available.

“Am I my genes?”: Questions of identity among individuals confronting genetic disease

Purpose: To explore many questions raised by genetics concerning personal identities that have not been fully investigated.Methods: We interviewed in depth, for 2 hours each, 64 individuals who had or were at risk for Huntington disease, breast cancer, or alpha-1 antitrypsin deficiency.Results: These individuals struggled with several difficult issues of identity. They drew on a range of genotypes and phenotypes (e.g., family history alone; mutations, but no symptoms; or symptoms). They often felt that their predicament did not fit preexisting categories well (e.g., “sick,” “healthy,” “disabled,” “predisposed”), due in part to uncertainties involved (e.g., unclear prognoses, since mutations may not produce symptoms). Hence, individuals varied in how much genetics affected their identity, in what ways, and how negatively. Factors emerged related to disease, family history, and other sources of identity. These identities may, in turn, shape disclosure, coping, and other health decisions.Conclusions: Individuals struggle to construct a genetic identity. They view genetic information in highly subjective ways, varying widely in what aspects of genetic information they focus on and how. These data have important implications for education of providers (to assist patients with these issues), patients, and family members; and for research, to understand these issues more fully.

Exclusion of Genetic Information From the Medical Record: Ethical and Medical Dilemmas

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.