Background: There is great interest in the implementation of genomic medicine, i.e., using genomic information to inform patient care. As a result, patients with medically actionable (preventable and/or treatable) genetic conditions are being identified, often as an unsolicited secondary finding or a result of screening in the absence of a clinically known condition. The identification of a previously unsuspected medically actionable condition enhances the ability of health care providers' (HCPs) to intervene early to prevent disease.
The potential benefits and harms of returning genomic results to children and their parents are matters of enduring controversy--especially genomic results for adult-onset conditions that are not medically actionable in childhood. Returning results for adult-onset conditions can spur life-saving preventive measures in the parents of affected children. However, there has been long-standing concern that children who receive a result for an adult-onset condition might experience negative psychosocial outcomes such as distress or altered family functioning.
While the value of identifying individuals in the population who carry `actionable' variants and screening their relatives (i.e. cascade screening) is widely acknowledged, there are numerous barriers in implementing this process and studying the optimal approaches for doing this. First, the feasibility of returning genetic results is complex as it depends on many issues, including the community expectations, consent form language, local IRB considerations, and logistical, feasibility, and cost issues, among others.
Human genome editing is a powerful tool for creating precise changes to the genome, an organism+D6s complete set of genetic material. With these advances has come an explosion of interest in the possible applications of genome editing, both in conducting basic research and the potential to prevent, treat, and cure disease and disability. Genome editing could provide insights into reproductive failures and improve contraception and fertility treatments.
Recent expansions in prenatal genetic testing have renewed concerns from both disability advocates and right- to-life movements that these tests serve primarily to enable elective terminations, However, as prenatal genetic testing becomes easier, safer, and more accessible, many women say they choose it for a very different reason: preparation.
Project Narrative The potential benefits and harms of returning genomic results to children and their parents are matters of enduring controversy?especially genomic results for adult-onset conditions that are not medically actionable in childhood. Empirical data to support either position in this controversy are, however, lacking.
PROJECT NARRATIVE Preparation is often cited as a reason for offering and for accepting prenatal genetic screening and diagnosis. However, this term has no clear definition, and thus it is impossible either to prove benefit or to recommend best practices.
PROJECT NARRATIVE The goal of this study is to study the effect of an evidence-based communication tool to support patients? decision-making about noninvasive prenatal genetic testing, by focusing on the communication that takes place in the clinical encounter.