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

Abstract

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.

Risk-taking and pathological gambling behavior in Huntington’s disease

“…In this family, two individuals were diagnosed with pathological gambling around the age of 18, well before the onset of clinical signs of HD. Other epidemiological studies have not reported on this issue, although impaired decision-making, risk taking, and poor judgment have been shown to pose a risk for HD patients handling important life decisions and financial affairs (Klitzman et al, 2007; Shannon, 2011). Similarly, reports on related issues such as substance abuse and addiction to Internet use are missing in the current literature on HD pathology.…”

The Impact of Social Contexts in Testing for Alpha-1 Antitrypsin Deficiency: The Roles of Physicians and Others

“…We have used these methods in several other studies involving genetics (Klitzman et al, 2007a(Klitzman et al, , 2007b(Klitzman et al, , 2007c) and other aspects of health behavior and doctor-patient relationships and communications (Klitzman et al, 2006a(Klitzman et al, , 2006b). Specifically, grounded theory involves both inductive and deductive thinking, building inductively from the data to an understanding of themes and patterns within the data, and deductively drawing on frameworks from previous research and theories.…”

“…For several other adult-onset diseases, studies have explored how patients make decisions about testing-for example, for Huntington's disease (Klitzman et al, 2007a(Klitzman et al, , 2007b(Klitzman et al, , 2007c, breast cancer ( Jacobsen et al, 1997;d'Agincourt-Canning, 2006), and hereditary nonpolyposis colorectal cancer (AktanCollan et al, 2000;Hadley et al, 2003). AATD may resemble, and=or differ from, these other conditions in critical wayssuch as the timing and extent of clinical presentation, severity of symptoms, means of diagnosis, patterns of inheritance, and genetic expression-all of which can affect patient and health care provider making decisions about testing, treatment, and care.…”

Label Management: Investigating How Confidants Encourage the Use of Communication Strategies to Avoid Stigmatization

“…They may vary in their ability to be concealed. Last, some labeling conditions, such as genetic diagnosis (Klitzman et al, 2007), may inherently involve someone else's privacy. These variations may produce different relationships between perceived devaluationdiscrimination and coping strategies.…”