Abstract:
Non-invasive prenatal testing (NIPT) for select fetal trisomies became clinically available
in 2011. When it was introduced, there were no formal recommendations regarding how
healthcare providers should incorporate NIPT into the prenatal genetic counseling setting.
We sought to identify how genetic counselors have incorporated NIPT, how they obtain
informed consent from their patients, and their opinions regarding the informed consent
process for NIPT. We distributed an anonymous online survey to NSGC members
through an e-blast to the NSGC listerv. We directed our recruitment toward prenatal
genetic counselors in late October 2012, which was approximately one year after NIPT
became clinically available. Two hundred and six prenatal genetic counselors responded
to the survey, and 181 indicated they had incorporated NIPT into their practice with the
majority offering this testing to patients whose pregnancies are high risk. Respondents
indicated that genetic counselors, as well as other healthcare providers, obtain informed
consent from patients, and most do so verbally. Most respondents indicated that there
should be a separate informed consent form for NIPT and that a discussion about NIPT
with a patient should highlight that it is a screening test, it has a detection rate superior to
that of maternal serum screening, an explanation of the specific conditions that NIPT
screens for, and recommendations for invasive testing following a positive NIPT result.
Following data collection for our study, the American College of Obstetricians and
Gynecologists (ACOG), the National Society of Genetic Counselors (NSGC), and the
American College of Medical Genetics and Genomics (ACMG) released practice
guidelines for offering NIPT. Our results demonstrate that most genetic counselors have
been offering NIPT in a manner consistent with the guidelines that the major governing
bodies in prenatal genetics have since published. Future research should investigate
patient understanding following NIPT to determine the best method for obtaining
informed consent.
