The use of heuristics in genetic testing decision-making: A qualitative interview study

Background Decision-making concerning predictive genetic testing for hereditary cancer syndromes is inherently complex. This study aims to investigate what kind of complexities adults undergoing genetic counseling in Switzerland experience, how they deal with them, and what heuristics they use during the decision-making process. Methods Semi-structured qualitative interviews with eighteen Swiss adults seeking genetic counseling for hereditary cancer syndrome genetic testing and two counseling physicians were conducted and analyzed using a grounded theory approach. Results Counselees stated that once they were aware of their eligibility for genetic testing they perceived an inevitable necessity to make a decision in a context of uncertainties. Some counselees perceived this decision as simple, others as very complex. High emotional involvement increased perceived complexity. We observed six heuristics that counselees used to facilitate their decision: Anticipating the test result; Focusing on consequences; Dealing with information; Interpreting disease risk; Using external guidance; and (Re-)Considering the general uncertainty of life. Limitations Our findings are limited to the context of predictive genetic testing for hereditary cancer syndromes. This qualitative study does not allow extrapolation of the relative frequency of which heuristics occur. Conclusions The use of heuristics is an inherent part of decision-making, particularly in the complex context of genetic testing for inherited cancer predisposition. However, some heuristics increase the risk of misinterpretation or exaggerated external influences. This may negatively impact informed decision-making. Thus, this study illustrates the importance of genetic counselors and medical professionals being aware of these heuristics and the individual manner in which they might be applied in the context of genetic testing decision-making. Findings may offer practical support to achieve this, as they inductively focus on the counselees’ perspective.

Predictive Genetic Testing by the U.S. Military: Legal and Ethical Issues

ABSTRACT Introduction Precision medicine is a significant component of the military medical vanguard. One area of growing interest involves predictive genetic testing (PGT)—which can be used for both medical evaluation and operational planning. Predictive genetic testing is likely to play an increasingly important role in the military, in terms of both medically related testing to predict the risk of disease or injury and testing for non-medical traits that may be relevant to military performance. Materials and Methods This article describes predictive tests that currently are in use by the military or that might be of interest to the military. The article also explores the risks and benefits associated with PGTs, describes the ambiguities in the current laws and directives governing the military use of PGT, and proposes a set of guidelines for the use of PGTs by the military. Results There is no publicly available law or DoD policy that prevents the military from conducting PGT before or after accession. Currently, the only genetic testing routinely employed by the U.S. military is for medical purposes. In addition to non-routine genetic testing to diagnose genetic diseases and conditions, the military also uses targeted testing for predictive purposes. As additional predictive genetic tests are developed and become widely used, the military can be expected to employ those that are of relevance. Predictive military genetic testing of active duty service members could reduce their risk of illness and injury, improve their physical and mental fitness, enhance the health and well-being of the unit, make mission accomplishment more certain and efficient, and reduce medical and other costs for the military and veterans. Moreover, individuals with genetic variants that might enhance the likelihood of successfully completing a military mission could be preferred for certain positions or assignments, such as special operations. At the same time, there are risks that genetic information may be used for improper purposes or may stigmatize service members. Conclusions Predictive genetic testing is likely to play an increasingly important role in the military, in terms of both medically related testing to predict the risk of disease or injury and testing for non-medical traits that may be relevant to military performance. In instances where PGT meets standard scientific measures of validity and utility, test results can be used to promote the health and welfare of individual service members, units, and military missions. In cases where PGT does not rise to the level of meeting standard scientific criteria, officials should proceed cautiously in incorporating the information into clinical care and military decision-making. There needs to be an appropriate method of collectively calculating risks and benefits. Moreover, although military directives prohibit “unlawful discrimination,” this term has received no elaboration in any publicly available military pronouncements. This lacuna should be rectified to provide proper guidance to service members, medical personnel, and the public. Although the promise of PGT may compel military officials to consider ways to maximize the use of test results, the risk of undermining military goals with unverified uses also should be considered appropriately.

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact of result disclosure has been little studied. We evaluated the psychosocial impacts of PGT in hereditary heart disease, using self-report questionnaires (including the State-Trait Anxiety Inventory) in 517 adults, administered three times to the prospective cohort (PCo: n = 264) and once to the retrospective cohort (RCo: n = 253). The main motivations for undergoing PGT were “to remove doubt” and “for their children”. The level of anxiety increased between pre-test and result appointments (p <0.0001), returned to baseline after the result (PCo), and was moderately elevated at 4.4 years (RCo). Subjects with a history of depression or with high baseline anxiety were more likely to develop anxiety after PGT result (p = 0.004 and p <0.0001, respectively), whatever it was. Unfavourable changes in professional and/or family life were observed in 12.4% (PCo) and 18.7% (RCo) of subjects. Few regrets about PGT were expressed (0.8% RCo, 2.3% PCo). Medical benefit was not the main motivation, which emphasises the role of pre/post-test counselling. When PGT was performed by expert teams, the negative impact was modest, but careful management is required in specific categories of subjects, whatever the genetic test result.