期刊
GENETICS IN MEDICINE
卷 23, 期 6, 页码 1058-1064出版社
ELSEVIER SCIENCE INC
DOI: 10.1038/s41436-021-01110-3
关键词
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资金
- Wellcome Trust [HICF-1009-003]
- Department of Health [HICF-1009-003]
- Wellcome Sanger Institute [WT098051]
- National Institute for Health Research, through the Comprehensive Clinical Research Network
- Wellcome Trust
Receiving a genetic diagnosis for developmental disorders has substantial positive medical and psychosocial outcomes for the majority of patients and their families, including disease-specific treatment, further investigations, and family support.
Purpose The clinical and psychosocial outcomes associated with receiving a genetic diagnosis for developmental disorders are wide-ranging but under-studied. We sought to investigate outcomes from a subset of families who received a diagnosis through the Deciphering Developmental Disorders (DDD) study. Methods Individuals recruited through the Peninsula Clinical Genetics Service who received a confirmed genetic diagnosis through the DDD study before August 2019 (n = 112) were included in a clinical audit. Families with no identified clinical outcomes (n = 16) were invited to participate in semistructured telephone interviews. Results Disease-specific treatment was identified for 7 probands (6%), while 48 probands (43%) were referred for further investigations or screening and 60 probands (54%) were recruited to further research. Just 5 families (4%) opted for prenatal testing in a subsequent pregnancy, reflecting the relatively advanced maternal age in our cohort, and 42 families (38%) were given disease-specific information or signposting to patient-specific resources such as support groups. Six interviews were performed (response rate = 47%) and thematic analysis identified four major themes: reaching a diagnosis, emotional impact, family implications, and practical issues. Conclusion Our data demonstrate that receiving a genetic diagnosis has substantial positive medical and psychosocial outcomes for the majority of patients and their families.
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