'Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project.

Aim: To describe practicing physicians' perceived clinical utility of genome sequencing.

Materials & Methods: We conducted a mixed-methods analysis of data from 18 primary care physicians and cardiologists in a study of the clinical integration of whole-genome sequencing. Physicians underwent brief genomics continuing medical education before completing surveys and semi-structured interviews.

Factors affecting recall of different types of personal genetic information about Alzheimer's disease risk: the REVEAL study.

Methods: Data were obtained through a multisite clinical trial in which different types of genetic risk-related information were disclosed to individuals (n = 246) seeking a risk assessment for Alzheimer's disease.

Results: Six weeks after disclosure, 83% of participants correctly recalled the number of risk-increasing APOE alleles they possessed, and 74% correctly recalled their APOE genotype. While 84% of participants recalled their lifetime risk estimate to within 5 percentage points, only 51% correctly recalled their lifetime risk estimate exactly.

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.

Background: Whole genome sequencing (WGS) is already being used in certain clinical and research settings, but its impact on patient well-being, health-care utilization, and clinical decision-making remains largely unstudied. It is also unknown how best to communicate sequencing results to physicians and patients to improve health. We describe the design of the MedSeq Project: the first randomized trials of WGS in clinical care.

Communicating genetic risk information for common disorders in the era of genomic medicine.

Communicating genetic risk information in ways that maximize understanding and promote health is increasingly important given the rapidly expanding availability and capabilities of genomic technologies. A well-developed literature on risk communication in general provides guidance for best practices, including presentation of information in multiple formats, attention to framing effects, use of graphics, sensitivity to the way numbers are presented, parsimony of information, attentiveness to emotions, and interactivity as part of the communication process. Challenges to communicating genetic risk information include deciding how best to tailor it, streamlining the process, deciding what information to disclose, accepting that communications may have limited influence, and understanding the impact of context.

Mothers' perspectives on their child's mental illness as compared to other complex disorders in their family: insights to inform genetic counseling practice.

To facilitate the development of a therapeutic alliance in genetic counseling, it is important that the counselor understands how families might perceive the condition that constitutes the reason for the referral. Through training and professional practice, genetic counselors develop a thorough understanding of families' perceptions of the conditions that are common indications for genetic counseling. But, for referral indications that are less frequent, like serious mental illnesses, genetic counselors may feel less confident in their understanding of the family's experience, or in their ability to provide psychosocial support when serious mental illness is reported in a family history.