Clinically Significant Germline Mutations in Cancer-Causing Genes Identified Through Research Studies Should Be Offered to Research Participants by Genetic Counselors

open access

 Genetic sequencing, resulting in the identification of pathogenic germline mutations conferring significantly increased cancer risk, has become de rigueur for research studies with access to populations with and without personal and family histories of cancer. Genetic technology is now more efficient and affordable, and evidence has amassed of the pathogenicity of identified gene mutations.^1,2 Debate continues about the benefits and harms of returning research results. Benefits include the clinical and personal utility of the genetic information and the potential for treatment or prevention.^3-5 An example is cancer genetics, where efficacious cancer risk-management strategies known to reduce cancer-related morbidity and mortality are available to individuals who carry a high-risk germline mutation.^6,7 Harms include psychological distress, perceived patient discrimination and stigmatization, and erroneous results as a result of research laboratories' not being required to adhere to the Clinical Laboratory Improvement Amendments standards and regulations.⁸ The notion of “therapeutic misconception” has also been cited as a risk to participants. This theory describes participants’ misunderstanding about the boundaries between research and clinical domains, where participants assume that a research study will provide clinical benefit.^9,10 Current opinion proposes that researchers have an ethical duty to return individual genetic research results subject to the existence of proof of validity, significance, and benefit.^8,11 Therefore, attention needs to be focused on how the information should be communicated so participants can make an informed decision about whether they wish to receive their genetic research results.....