Amber GammaGenetic Counseling, IVI RMA America
- IVI RMA America
- United States of America
We read with great interest the recent article by Decherney et al. debating the responsibility of reproductive endocrinologists in tackling the ever mounting complexity of genetics in the fertility clinic. We agree with both the pro and con side that while there is great potential in the power of genetics to improve fertility care, the level of training necessary to adequately educate patients about genetic testing choices and empower them in proper decision-making is a mountain casting a ever-larger shadow on reproductive endocrinologists. While the authors debate the role of reproductive endocrinologists in accomplishing this feat, there was surprisingly little reference to the role of a genetic counselor in this task. Genetic counselors are to be found not only at carrier screening or preimplantation genetic testing (PGT) labs, but increasingly in fertility clinics, each with a unique set of roles and responsibilities (1). Our in-clinic roles alongside REIs complement and enhance their care given our specialized training in genetic testing, genetic technologies, and empowering and assisting patients in their decision-making. This, in turn, reduces the burden many physicians feel at tackling conversations surrounding reproductive genetics (2). Between 2018 and 2021 alone there was a 32% growth in genetic counselors reporting their area of specialization as infertility and PGT(3)(4). While we welcome any reproductive endocrinologist who pursues a reproductive genetics fellowship to join us in our roles as genetics experts, it also behooves the field to recognize the resources currently available to them. As we submit this letter on Genetic Counselor Awareness Day, we implore our reproductive medicine colleagues to invite us to the table and collaborate in the spirit of working toward a common goal: building the families our patients so fervently desire.
The Executive Board of ASRM’s Genetic Counseling Professional Group
- Snider, A. Isley, L., Black, L. (2021). Scope of practice distinctions based on primary work setting for genetic counselors in assisted reproductive technologies. F&S Reports 2(1): 80-87.
- Miller, J., Callum, P., Isley, L. (2022). The impact of genetic counselors in assisted reproduction clinics: A survey of practice managers. Fertility & Sterility 118(4): E324.
- National Society of Genetic Counselors (NSGC). Professional Status Survey 2018: Work Environment Report. Accessed November 9th, 2022 from https://www.nsgc.org/LinkClick.aspx?fileticket=7zRyfCh5YjY%3d&portalid=0×tamp=1650985452543
- National Society of Genetic Counselors (NSGC). Professional Status Survey 2021: Work Environment Report. Accessed November 9th, 2022 from https://www.nsgc.org/LinkClick.aspx?fileticket=hDguTHBhb7A%3d&portalid=0
Very excited to see this data published; however I would like to note that NIPT is not the most appropriate follow-up test for women who become pregnant from a mosaic embryo and found its inclusion in the data as proof of a good/"normal" outcome puzzling. Firstly, NIPT is a screening test that uses cell-free fetal DNA, which is placental in origin and therefore arises from the trophectoderm of the embryo. While concordant with the fetus in most cases, it may be normal in the presence of a chromosomally abnormal fetus and is particularly problematic if confined placental mosaicism exists. Second, most NIPT platforms include only chromosomes 13, 18, 21 and the sex chromosomes and therefore give you no information on other chromosome aneuploidies that may have been mosaic in the embryo on PGT-A. Finally, while a whole-genome NIPT is currently available, there remain a lot of unknowns about the performance of this screening test in terms of its positive predictive value (PPV) and negative predictive values (NPV). False-positives are likely on this testing, which would push a patient with a very precious pregnancy to diagnostic testing through CVS or amniocentesis. Amniocentesis remains the optimal follow-up test for patients who become pregnant (with 50 cell karyotype and microarray if a segmental mosaic was transferred!). NIPT must be offered with care and proper counseling regarding the limitations. Thanks for this exciting paper!