We’re thrilled that the first results from the PREPARE study have now been published in the Journal of Community Genetics! This article draws on our interviews with family support groups, and reports on their priorities when communicating with families who’ve recently received a genetic diagnosis, their limitations (especially related to limited funding), and ultimately their understanding of how best to help people prepare to be parents of a child with a genetic condition.
We’re so grateful to the support group representatives who shared their time and expertise with us, since there has been very little empirical research on the important work these groups do.
Because this work is supported by the US National Institutes of Health, it’s freely available through the federal PubMed Central library. Enjoy via the link below, and share freely!
Craig KP, Riggan KA, Rubeck S, Meredith SH, Allyse M, Michie M. Never “Totally Prepared”: Support Groups on Helping Families Prepare for a Child With a Genetic Condition. Journal of Community Genetics 2023 online ahead of print. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092915/
Abstract: A rapid increase in the reach and breadth of prenatal genetic screening and testing has led to an expanding need for prenatal support of families receiving this genetic information. As part of a larger study investigating prenatal preparation for a child with a genetic condition, we interviewed representatives of patient advocacy groups (PAGs) who support parents post-diagnosis. Groups supporting families with Down syndrome were often local or regional, while other groups were often national or international in scope. Groups varied in their willingness or ability to support families prior to making a pregnancy continuation decision, and participants reflected on ways they addressed these needs with individual counseling and referrals, if needed. Participants described supporting parents with information about conditions and a range of lived experiences for families, while referring families to healthcare professionals for technical questions and additional medical needs. PAGs also prioritized connecting parents experiencing a new diagnosis with other families for peer support and community-building, both in person and on social media. Participants discussed limitations, such as a lack of racially-concordant support, ability to offer resources in languages other than English, and a lack of funding to meet the expressed needs of families post-diagnosis. Overall, participants emphasized that the parenting experience of each child is unique, irrespective of a genetic diagnosis, an experience for which parents can never be “totally prepared.”
The PREPARE Study 