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"Let me figure out how to help you:"  Perspectives on preparing to parent a child with a genetic condition

Prenatal Genetics
  • Primary Categories:
    • Prenatal Genetics
  • Secondary Categories:
    • Prenatal Genetics
Introduction:
Genetic testing has become ubiquitous in prenatal care, historically with the assumption that genetic information aids decisions about pregnancy continuation. But for families choosing to continue a pregnancy, it is unclear whether and how prenatal genetic information holds benefit, since the concept of prenatal preparation is historically undefined and under-investigated.

Methods:


As part of a longitudinal study conceptualizing prenatal preparation, qualitative interviews were conducted with parents who had received a high risk screening or diagnostic fetal genetic test result pre- and/or postnatally. Site partners at 3 geographically-diverse US health systems offered study participation as an opt-in to eligible patients and their partners. Parents were interviewed once prenatally, when possible, and twice postnatally, within 6 months of birth and at approximately 1 year post-birth. Single interviews with health care providers (HCPs, including clinical geneticists, genetic counselors, OB/GYN/MFMs, and others) who deliver prenatal diagnoses and/or provide follow-up care for patients from study sites were also conducted. Subsequently, we compared the findings with the results from complementary and robust qualitative and mixed-methods studies of patients who received a prenatal diagnosis of Down syndrome [Artal et al., Meredith et al.] and a PCORI project involving Black and Hispanic women learning about a diagnosis of Down syndrome [Meredith & Wright].

Results:
A total of 64 interviews were conducted with 33 parents between December 2020 and December 2023. Of the 24 families represented, 9 had received a diagnosis of Down syndrome and 15 received diagnoses of other genetic  conditions, several of which were rare and carried uncertain prognoses. Interviews with HCPs (n=35) were conducted between October 2021 and January 2024. In interviews, parents and HCPs discussed meanings of and approaches to preparation, including ways that genetic test results were delivered and how families were supported from pregnancy through one-year post-birth. Parents noted that receiving information prenatally allowed them to adapt to their child’s condition earlier, emotionally process the diagnosis before delivery, and seek out appropriate medical care and social support. HCPs emphasized the importance of genetic information for facilitating birth planning and interventions at or immediately post-birth; they also discussed helping parents find emotional and clinical support, access support networks, and navigate healthcare systems. Both parents and HCPs discussed challenges associated with prenatal genetic information, including limited ability to predict long-term prognosis, potential anxiety and stress for parents, and limitations in cases of rare disease, uncertain variants, and life-limiting diagnoses. The model of an integrated care coordinator, who supports families holistically from diagnosis to post-birth, assisting with healthcare system logistics, health literacy, and referrals, was discussed by both groups as particularly helpful. Complementary studies by Artal et al. (n=89) and Meredith et al. (n=242) and the PCORI project (n=36) affirmed that parents wanted information about peer support networks (ideally from peers who share the same racial or ethnic identity), balanced life outcome information, and information about supports and services to address social determinants of health. 

Conclusion:
Preparing to parent a child with a genetic condition requires access to condition-specific clinical, informational, and social support that is culturally competent.  Access to such resources was uneven among families in this study, though perhaps the most success was reported for a model of patient-centered care coordination. However, as the scope and pervasiveness of prenatal genetic testing increases, more families will receive uncertain and rare genetic test  results, with significant pragmatic challenges to support systems within and outside healthcare institutions. Without adequate resources, including access to expert medical care and social support networks, the benefits of prenatal genetic information for families may be largely unrealized.

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