Expanded carrier screening in reproductive healthcare: Perspectives from genetics professionals

D. Cho, M. L. McGowan, J. Metcalfe, R. R. Sharp

Research output: Contribution to journalReview articlepeer-review

36 Scopus citations


STUDY QUESTION How do genetics professionals assess the potential benefits and challenges of expanded carrier screening (ECS) in reproductive healthcare? SUMMARY ANSWER Genetics professionals believe that current ECS products have major limitations and are not ready for routine use in reproductive healthcare. WHAT IS KNOWN ALREADY Non-targeted approaches to carrier screening have been met with uneven enthusiasm from relevant professional organizations. With declining genotyping costs, it is reasonable to expect that the number of genetic conditions evaluated by carrier-screening products will continue to increase. Reproductive healthcare providers will play a critical role in the adoption of ECS and need to be prepared for the potential challenges that lie ahead. STUDY DESIGN, SIZE, DURATION Focus groups were convened at six academic medical centers in the USA in March 2011 to examine genetics professionals' views on ECS. PARTICIPANTS/ MATERIALS, SETTING, METHODS Forty genetic professionals participated in six focus groups for this study. A clinical case report was presented to each focus group to examine participants' opinions about the use of highly multiplexed forms of carrier screening in reproductive healthcare. Focus group transcripts were analyzed for major themes and thematic density across sites using qualitative data analysis software (ATLAS.ti v5.8). MAIN RESULTS AND THE ROLE OF CHANCE Participants believed that current ECS products have major limitations pertaining to the analysis of select alleles and genetic mutations. Participants highlighted multiple interpretive and counseling challenges that reproductive healthcare providers may face in communicating ECS results to patients. Participants stressed the importance of communicating these and other limitations to patients before recommending ECS. Participants recommended collaboration with genetic counselors and medical geneticists in providing ECS. LIMITATIONS, REASONS FOR CAUTION To the extent that ECS products have not been widely used to date, participants may have had limited familiarity and direct clinical experience with these products. Given that this study was conducted with genetic professionals from academic medical centers in the USA, participant perspectives may not be representative of professional practices and norms in other healthcare settings. WIDER IMPLICATIONS OF THE FINDINGS In considering the use of ECS products in their practices, reproductive healthcare providers may find it helpful to consider the perspectives of genetics professionals. These specialists have considerable experience with diverse forms of genetic testing and can provide valuable insights regarding new genomic risk assessment tools such as ECS. STUDY FUNDING/COMPETING INTEREST(S) This research was supported by the National Human Genome Research Institute (R01 HG004500 and P50 HG003390).

Original languageEnglish (US)
Pages (from-to)1725-1730
Number of pages6
JournalHuman Reproduction
Issue number6
StatePublished - Jun 2013


  • carrier screening
  • focus groups
  • genetics
  • reproductive healthcare providers

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology


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