The purpose of this initiative is to support investigator-initiated research on genetic counseling processes and practices in genomic medicine. Research is needed to optimize the genetic counseling process in the context of limited resources. Applications will assess, innovate, scale, and/or research the implementation of novel genetic counseling practices to address the need for more healthcare professionals trained in genetic counseling; the uneven access to in-person genetic counseling across U.S. health care systems; and the challenges of effective and efficient communication of genomic findings to clinicians, patients, and families.
As medical practice shifts to include genetics and/or genomics in clinical testing, and clinical genetics simultaneously moves to include genomic sequencing and treat growing numbers of patients, investigator-initiated research to assess, innovate, scale, and refine genetic counseling processes and outcomes could have significant impact on the field. Genetic counseling includes a wide range of essential processes such as education of patients about the risks and benefits of genetic/genomic tests including how results may affect patients and their families; negotiation with payers; interpretation of laboratory reports; return of a growing array of results; communication of appropriate content; negotiation of boundaries between research and clinical care; and patient referral and follow-up. However, the practice of genetic counseling has received little explicit research attention. Current research often focuses either on what results to return or downstream health outcomes. Research is needed on methods to optimize the genetic counseling process for genomic testing, particularly in the context of limited resources. In addition, the strategies necessary for counseling may vary by who returns the results (e.g., genetics specialist vs. non-genetics provider), when disclosure occurs during the process of clinical care, and in what mode results are returned (e.g., face-to-face, online, or tele-counseling). Just as clinical sequencing and annotation processes have been studied as they transition to genomic approaches, this key part of the clinical genomic pipeline may benefit from exploration and innovation.
The substantial growth of genomic medicine relative to the limited increase of professionals trained in genetic counseling also suggests that research on alternative, less labor-intensive methods of genetic counseling (e.g. automated triage, chatbots, health professionals training, telemedicine) may be important and timely. Research is needed to explore whether and in what contexts these methods may have benefit. Finally, further examination of the post-test period is needed to understand how patients comprehend and potentially act on information conveyed through different modes of counseling.
NHGRI is committed to maximizing the utility of genomics for all populations. Racial and ethnic minority populations, underserved populations, and populations who experience poorer medical outcomes have been vastly underrepresented in genomic research to date. Increasing access to genomic medicine and genetic counseling represents a key step in helping patients and families appreciate how genomics, in addition to the environment, impacts their health. Specialized tools and methods may improve the counseling process for diverse patients and patients with specific needs (e.g. lower literacy, non-English-speaking, differing cultures or values, clinically urgent settings). Projects are strongly encouraged to not only include diverse and underrepresented participants but also strategies that impact ancestrally diverse and underrepresented populations.
Investigator-initiated research focused on genetic counseling practices and processes in genomics will generate innovative and improved methods adaptable to multiple settings, institutions, and types of healthcare providers. It is important to evaluate how changes to existing practices impact stakeholders of the genetic counseling process. In addition, the research should facilitate a broader integration of genomic medicine into clinical care.
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