Genetic Counselors’ Perspectives About Cell‐Free DNA: Experiences, Challenges, and Expectations for Obstetricians

Abstract

The expansion of cell-free fetal DNA (cfDNA) screening for a larger and diverse set of genetic variants, in addition for use among the low-risk obstetric population, presents important clinical challenges for all healthcare providers involved in the delivery of prenatal care. It is unclear how to leverage the different members of the healthcare team to respond to these challenges. We conducted interviews with 25 prenatal genetic counselors to understand their experience with the continued expansion of cfDNA screening. Participants supported the use of cfDNA screening for the common autosomal aneuploidies, but noted some reservations for its use to identify fetal sex and microdeletions. Participants reported several barriers to ensuring that patients have the information and support to make informed decisions about using cfDNA to screen for these different conditions. This was seen as a dual-sided problem, and necessitated additional education interventions that addressed patients seeking cfDNA screening, and obstetricians who introduce the concepts of genetic risk and cfDNA to patients. In addition, participants noted that they have a professional responsibility to educate obstetricians about cfDNA so they can be prepared to be gatekeepers of counseling and education about this screening option for use among the general obstetric population.

Impact of cell‐free DNA screening on parental knowledge of fetal sex and disorders of sex development

“…Similarly, ACOG does recommend counseling prior to obtaining cfDNA, but does not mandate meeting with a genetic counselor or clinical geneticist and post‐test counseling is not currently in the recommendations 33 . Accordingly, a recent survey of genetic counselors who administer cfDNA screening expressed significant concern with lack of patient knowledge of the implications of the screen and the increasing use of the screen to determine predicted fetal sex 34 . In fact, some patients refer to the screen as the ‘gender test,’ and some companies (eg, SneakPeak, EasyDNA) even market cfDNA ‘gender testing’ directly to parents without requiring any interaction with healthcare professionals.…”

Evaluation of an automated process for disclosure of negative noninvasive prenatal test results

“…With genetic counselors reporting an emerging problem of spending a greater proportion of counseling efforts identifying and correcting patients’ preconceived notions and misunderstandings about NIPT screening (Agatisa, Mercer, Coleridge, & Farrell, ), an automated methodology for patient education is supportive of genetic counselors’ efforts. By relegating the task of negative NIPT result education to an automated process, we ensured accurate clinical content was consistently provided to all registered patients.…”

Receiving a prenatal diagnosis of Down syndrome by phone: a qualitative study of the experiences of pregnant couples

“…It would be equally important to conduct a study of the experience of the calling physician and the perspectives and concerns that shape physician’s approach to the conversation. Interestingly, in the related field of prenatal genetics there is a significant amount of scientific literature on clinician’s perspectives, for example, considerations about how to best inform about testing options and convey results,44–46 or how to involve patients in decision-making 47 48. With some exceptions2 49, such a tradition of investigating the professional’s views is currently lacking within fetal medicine and could be investigated further.…”