Time Costs for Genetic Counseling in Preconception Carrier Screening with Genome Sequencing.

Advances in technology and the promise of personalized health care are driving greater use of genome sequencing (GS) for a variety of clinical scenarios. As health systems consider adopting GS, they need to understand the impact of GS on the organization and cost of care. While research has documented a dramatic decrease in the cost of sequencing and interpreting GS, few studies have examined how GS impacts genetic counseling workloads.

The NextGen Study: patient motivation for participation in genome sequencing for carrier status.

Background: While translational genomic sequencing research is increasing, few studies have been limited to healthy individuals; most have focused on patients with a disease or a strong family history of a disorder. The limited studies that have included healthy individuals have focused on the disclosure of medically actionable secondary results, rather than carrier status, to assess reproductive risks. To address this important gap, we conducted the NextGen study, which focuses on carrier status and medically actionable secondary findings in a population of women planning a pregnancy.

Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing.

Genomic carrier screening can identify more disease-associated variants than existing carrier screening methodologies, but its utility from patients' perspective is not yet established. A randomized controlled trial for preconception genomic carrier screening provided an opportunity to understand patients' decisions about whether to accept or decline testing. We administered a survey to potential genomic carrier screening recipients who declined participation (N = 240) to evaluate their reasons for doing so.