Over the past year, the Genetics Services Research Unit investigators have been conducting genetic counseling related research within two NHGRI research initiatives: The Multiplex Initiative and ClinSeq;and a study on uncertainty among parents of children with undiagnosed medical conditions. One study capitalized on the availability of new genetic technology within the Multiplex Initiative which was conducted within a large health care system in Detroit, Michigan. All participants were offered a multiplex genetic test that assessed risk for eight conditions: type 2 diabetes, osteoporosis, hypertension, coronary heart disease, hypercholesterolemia, skin cancer, lung cancer and colorectal cancer.
We aim ed to understand participants hypothetical interest in selective return of results as little is known about peoples preferences when choosing among conditions on a multi-disease test. In this ancillary study, 286 healthy insured participants were offered multiplex genetic testing. Data was collected at baseline, during decision-making, and testing. On average, participants would have wanted testing for 4.8 out of 8 (SD=2.4) health conditions if given a choice. Seventy-eight percent of participants who took the multiplex test would have refused testing for at least one health condition, while 88% of those who declined testing were interested in one or more conditions. Wanting testing for more conditions was significantly associated with a greater likelihood of test uptake, with an OR of 1.16 (1.04-1.29, p=0.005) for each additional condition selected. Our findings suggest that participants make conceptual distinctions among tests for different health conditions. Future provision of genomic testing may need to develop mechanisms that allow patients to control what genetic risk information is generated. In conjunction with an NIH clinical whole genome sequencing study we explored participants preferences for the receipt of different types of their sequence results. We conducted a mixed-methods study of 311 sequential participants in the NIH ClinSeqTM study to assess general preferences and specific attitudes toward learning results and perceived opinions of valued others. We tested how these variables predicted intentions to receive results within four categories of findings ranging from medically actionable to variants of unknown significance. Two hundred ninety-four participants indicated a preference to learn their genome sequencing results and six were unsure. Most often participants cited disease prevention as their reason, including intention to change their lifestyle behaviors. A third expressed a general desire to know, reflecting those who generally valued information and others who sought to understand the personal implications of findings. Participants had positive attitudes, strong perceived social norms and strong intentions to learn results overall, although there were significant mean differences among four categories of findings (p<0.01). Attitudes and social norms for medically actionable and carrier results were most similar and rated the highest. Among these early adopters there was overwhelming enthusiasm to learn results. Participants distinguished among the types and quality of information they may receive despite strong intentions to learn all results presented. These intentions were motivated by confidence in their ability to use the information to prevent future disease and a belief in the value of even uninterpretable information. It behooves investigators to facilitate participants desire to learn a range of information from genomic sequencing, while promoting realistic expectations for its clinical and personal utility. Another study of parents with children with undiagnosed conditions explored the role of uncertainty in their adaptation. Uncertainty is a pervasive characteristic of illness. Yet little is known about the individual or situatioonal factors that contribute to perceptions of uncertainty. The present study aims to examine the factors that contribute to perceived uncertainty among parents of a child with an undiagnosed condition. Two hundred sixty-six parents of a child, or children, affected by an undiagnosed medical condition for at least 2 years completed an electronically administered mixed-methods survey assessing theoretical predictors of perceived uncertainty. Multivariate linear regression analysis was used to identify the relationship of key variables to perceived uncertainty. Parents perceived control and optimism were negatively associated with uncertainty (B= -4.044, P<0.001, B.<0.477, P<0.05). Subjective disease severity was positively associated with perceived uncertainty (B= -1.797, P<0.05). Our findings suggest that parents who experience greater uncertainty feel less control over their childs medical condition, which may lead to less effective coping and poorer adaptation. Parents who are less optimistic or who perceive their childs disease as more severe may benefit most from interventions that target situations where parents perceive the least control, thereby enhancing coping and ultimately, adaptation.
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