Integrating a Genetics/Genomics Team Into a Reproductive Medicine Practice

Background: Genetic screening of human embryos began in 1990. Since the nineties, advances in the genetic screening of human embryos called preimplantation genetic testing (PGT) have evolved. Over the last 30 years, reproductive medicine offices nationwide have increased to more than 100,000 cases of PGT per year. The cases of PGT climbed in an effort to increase live birth rate and reduce the risk of a child being born with a chromosome abnormality. In addition to PGT, another screening tool that has advanced in technology and availability is genetic carrier screening for specific autosomal recessive and X-linked diseases and helps patients learn their risk of having a child with specific genetic conditions. The changes in PGT and advances in genetic carrier screening require increased knowledge of genetics/genomics for both reproductive medicine (RM) staff and patients. There is a significant gap in care that is created by this rapidly advancing technology, patient expectations, and provider knowledge. Methods: This quality improvement project involved piloting the integration of a genetics/genomics team into a busy RM outpatient clinic. Staff interviews, surveys, chart reviews, and a thorough literature review determined the education needs. A genetics education workflow chart was created and evaluated to increase patient participation and understanding of PGT and genetic carrier testing. Twenty patients received the education and participated in evaluation activities. Educational material was made available in English and Spanish. Results: Fifteen staff members and 20 patients participated in this pilot project. Initial surveys indicated a need for education in the areas of genetic carrier screening, PGT, and patient expectations of embryo biopsy results. Evaluation of the RM staff showed responses were favorable regarding the use of the educational tool, workflow, and the genetics/genomics team. Patients, in particular, showed an increase in understanding of genetics information. Results showed marked improvement in patient understanding in genetics/genomics information after educational intervention. Survey results showed 80% of participants' level of understanding was poor-fair prior to genetics education intervention. Survey results post-education moved understanding to good-excellent (85%). The clinical outcome of the workflow chart increased the number of patients educated with the educational tool to improve clinical outcomes. Conclusions: This quality improvement project piloted a genetics/genomics team into a RM practice, created an evidence-based educational tool to standardize patient genetic teaching within an RM practice and increased patient's genetics/genomics understanding. Further studies with larger sample sizes are recommended in order to gain further knowledge on how to appropriately use a genetics/genomics team in a RM practice and effectively teach and manage patients utilizing PGT and genetic carrier screening.