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Advances in genetic medicine and shared-decision making

Once the province of rare disorders, genetic diagnosis and counseling has been integrated into the medical care of a rapidly increasing number of patients and their families. Advances in genetic knowledge and genetic laboratory testing have brought changes in medical practice at each stage of life, from preconception testing via expanded carrier screening, noninvasive prenatal screening using cell-free fetal DNA in maternal blood, newborn screening panels that test for an ever-growing number of genetic disorders, whole exome and genome sequencing, and multigene panel analysis of tumor tissue to detect genetic changes that can be targeted by anti-cancer drugs. The advances have led to a re-examination of the ways we gather information and communicate the results to patients and families. In this editorial, we discuss some of the issues faced by the medical community in the genomic era, including the historical use of genetic information and its influence on current practice, strategies for genetic counseling and results disclosure, and the many challenges for sharing genetic information to improve health care and decision making. In 1975, the American Society of Human Genetics (ASHG) defined genetic counseling as ‘a communication process which deals with the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family’ with particular emphasis placed on the process of communication [1]. The definition was expanded by the National Society of Genetic Counselors in 2006 to include ‘the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease’ with an emphasis placed on counseling to promote informed choices [2]. To assist patients with making these informed choices, genetic counseling has emphasized the principle of ‘nondirectiveness’. Nondirectiveness was conceived, at least in part, as a response to the historical misuse of purported genetic traits for eugenics purposes. Beginning in the mid-nineteenth century and continuing through the early to mid-twentieth century, prominent scientists, geneticists and policy makers embraced the concepts of positive eugenics (encouraging some people to reproduce) and negative eugenics (discouraging others, including through forced sterilization) because they believed that the genetic constitution of certain populations such as the poor, racial minorities and the disabled was leading to degeneration of the human race. Medical geneticists and genetic counselors have clearly distanced themselves from these misguided policies and take great care to emphasize patient autonomy and empowerment as their goal. But, there remains a debate about just how nondirective one should be. Although some have advocated for geneticists and genetic counselors to provide only the pertinent medical and genetic information and allow patients to make their choices, most practitioners take a more active approach that involves listening to patients’ thoughts and feelings, asking clarifying questions about their values and those of their families and communities, and exploring the consequences of each of their possible decisions [3]. Genetic communication in the twenty-first century is most concerned with helping the patient make their decisions within the contexts of both genetic knowledge and personal choice. As first described, genetic counseling sessions were divided into five phases: intake phase, initial contact phase, encounter phase, summary phase and a follow-up phase [4]. In instances where genetic testing is pursued, genetic counseling has two integral components: a pre-test consent discussion and a posttest disclosure conversation. The importance of preand post-test genetic counseling has affirmed by multiple professional societies [5,6]. Pre-test genetic counseling offers an opportunity to provide comprehensive information to patients in order to facilitate informed consent. Key components include review of testing offered, explanation of possible results (positive, negative, variants of uncertain significance), risks, benefits and limitations of genetic testing, and implications of test results for patient and family. Additionally, the pre-test phase often includes discussion of the logistical aspects of testing, such as cost and turnaround time. Post-test counseling is focused on disclosure of genetic testing results. In cases of positive genetic