One of our genetic counseling student colleagues at Wayne State University, Maryam Ijaz, and her program director, Angela Trepanier, performed an analysis of the data we collected from patients about their genetic counseling experiences, as a subset of the data we collected about prenatal Down syndrome diagnosis experiences, to see how well genetic counselors were following the published practice resource and the subsequent impact on patient experiences. Not surprisingly, she found that the closer counselors followed the practice resource, the better their experiences.
These results have now been published in the Journal of Genetic Counseling where we found the following:
- Practice resource adherence scores ranged from 0% to 100%. The median score was 42.9% (IQR 21.4–71.4).
- GCs were least likely to give resources from the state Department of Public Health, give resources about supports and services for people with DS (like Early Intervention), and give resources about the improved social and life outcomes for people with DS.
- Those with the most negative descriptions and least adherence to the practice resource were most likely to say that their genetic counselors were negative, not helpful, discussed termination, and said “I’m sorry” or “unfortunately”
- Those with the most positive descriptions and most adherence to the practice resource were most likely to say their genetic counselors were informative, positive, provided medical information, presented options neutrally, provided written/online resources, checked in on feelings, and offered connection with local group, national group, or family.
Some notable comments that negatively impacted diagnosis experiences were the following:
“Two of the genetic counselors within the MFM office left us in tears stating specifically that ‘best case scenario your daughter may someday serve breadsticks at Fazoli’s’”
“[The GC] said that our child would… ‘never have a job better than a bagger at a grocery store’”
Some notable descriptions of quality care included the following:
“We then met with a genetic counselor (the same day) who gave us more in depth info and resources. She sat with us for hours and answered all of our questions, reassured us that our feelings were 10,000% valid, went over the findings and what the doctors said over and over with us”
“Recommend anyone with a possibility of Ds to find a genetic counselor experienced with it to be part of the care team. During pregnancy, we viewed the ob/gyn and caring for the mother and the gen counselor as caring for the fetus”
Recommendations to improve diagnosis experiences and adherence to practice resources involved improving continuity of care and avoiding bias through improved training with resources like our learning modules available for free CEUs; improved service delivery; disseminating patient education resources; and updating the NSGC recommendations for communicating a Down syndrome diagnosis and systemically braiding them into practice.
Abstract:
In 2011, the National Society of Genetic Counselors (NSGC) published practice resources about communicating a prenatal or postnatal diagnosis of Down syndrome (DS). However, the impact of GC adherence to those recommendations on patient experiences has been unknown. The objective of this analysis was to investigate perceived GC adherence to professional recommendations for delivering a DS diagnosis and the impact on parental diagnosis experiences and the information and support offered. Parents of children with DS born between 2016 and 2021 completed a survey distributed by 12 local DS organizations and the national DS Diagnosis Network to assess prenatal diagnosis experiences and the provision of support and information by health professionals. Participants were queried about whether their GC followed specific recommendations from the NSGC practice resource. Respondents were also invited to describe their diagnosis experience. An overall perceived adherence score was calculated (percentage of elements GC demonstrated/ total number of elements). Open-ended responses were inductively coded by a GC and GC student to identify categories and to perform a sentiment analysis where 1 was completely negative, 2 was mixed/more negative, 3 was neutral, 4 was mixed/ more positive, and 5 was completely positive. The GCs were blinded to participants’ perceived adherence scores while performing the sentiment analysis. Of the 242 parents who completed the survey, 161 respondents answered questions about GC’s perceived practice resource adherence. The median perceived adherence score was 42.9% (IQR 21.4–71.4)%. A total of 61 people provided an open-ended response about their prenatal diagnosis experience with a GC and were assigned a sentiment score. The median sentiment score was 3 (IQR 1–5). Kendall’s Tau analysis showed that higher perceived practice resource adherence was associated with more positive sentiment scores. These results suggest that NSGC practice resource adherence may improve the prenatal diagnosis experiences of parents of children with DS and have the potential to improve counseling outcomes.
Ijaz, M. R., Trepanier, A. M., Kleinert, H. L., Weiss, S. M., & Meredith, S. H. (2024). Parent-reported genetic counselor adherence to the NSGC practice resource for communicating a potential prenatal diagnosis: Impact on the Down syndrome diagnosis experience. Journal of Genetic Counseling, 00, 1–12. https:// doi.org/10.1002/jgc4.1948
If you’d like a full copy of the article, access through the Journal of Genetic Counseling or email Stephanie Meredith at Stephanie.meredith@uky.edu.
