Reproductive endocrinologists' utilization of genetic counselors and their services: is there an unmet need?

Abstract

OBJECTIVE: Compared to the general population, patients of Ashkenazi Jewish descent have an increased risk of being genetic carriers for certain diseases, with an overall carrier rate ranging from 1 in 4 to 1 in 5 1 . Therefore, the American College of Obstetricians and Gynecologists (ACOG) strongly recommends this population be offered carrier screening for four conditions: Tay Sachs, Cystic Fibrosis, Familial Dysautonomia, and Canavan Disease 2 . Some experts have advocated for a more comprehensive screening panel, and subsequently, ACOG recognized that screening for the following Jewish Genetic Diseases can be offered to patients: Bloom syndrome, Familial hyperinsulinism, Fanconi anemia, Gaucher disease, Glycogen storage disease type I, Joubert syndrome, Maple syrup urine disease, Mucolipidosis type IV, Niemann-Pick disease, and Usher syndrome 2 . Given the genetic risks inherent in this population, carrier screening programs have been created to test for these founder mutations and have been successful in significantly decreasing the incidence of certain autosomal recessive conditions. Recently, however, with the advent of pan-ethnic, expanded carrier screening, we have the means to identify carriers for a broader array of conditions beyond the fourteen aforementioned 3 . The objective of this study is to assess whether the current screening recommendations are sufficient in diagnosing carrier status in the Ashkenazi Jewish population.DESIGN: Retrospective cohort study. MATERIALS AND METHODS: This was a retrospective chart review. Students at a single institution underwent genetic testing with expanded carrier screening through an outreach program at Rutgers University Hillel in October 2015. All the students were of Jewish descent. The genetic conditions tested in the expanded carrier screening were grouped into the following three categories based on ACOG's 2017 committee opinion regarding carrier screening: the four strongly recommended genetic conditions, the fourteen genetic conditions that can be offered, and the genetic diseases that are not specifically mentioned for screening in this population. The results were then divided according to this categorization.RESULTS: A total of 81 patients were screened. Of these, 36 (44.4%) were found to be carriers of at least one disease. Out of the 36 patients, 28 were found to be a carrier for one disease, 7 for two diseases, and 1 for three diseases, representing 45 total identified mutations. The carrier rate was 7/45 (15.6%) for the four recommended Jewish Genetic Diseases, 20/45 (44.4%) for the fourteen offered conditions, and 25/45 (55.6%) for genetic diseases that were not recommended in this population.CONCLUSIONS: If carrier screening for the Ashkenazi Jewish population was limited to only founder Jewish mutations in fourteen disorders, 44.4% of carriers would not have been identified. Our data supports that individuals of Ashkenazi descent should be offered pan-ethnic, expanded carrier screening.References: 1.

Expanded carrier screening for reproductive risk assessment: An evidence‐based practice guideline from the National Society of Genetic Counselors

“…While genetic counselors are a valuable resource, the disproportionate number of OB/GYN providers to genetic counselors in the United States do not allow for all patients to undergo a comprehensive pre‐test consultation with a genetic counselor. Despite REI providers consistently demonstrating the highest rates of ECS use, 72.6% of REI providers surveyed have reported not having a genetic counselor on staff (Dwan et al, 2019). Accessible methods of and tools for ECS pre‐test counseling to assist in informed consent should continue to be explored in order to achieve an efficient clinical workflow.…”