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Counseling for personal health implications identified during reproductive genetic carrier screening.
Gbur, Samantha; Mauney, Logan; Gray, Kathryn J; Wilkins-Haug, Louise; Guseh, Stephanie.
Afiliação
  • Gbur S; Center for Fetal Medicine and Reproductive Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Mauney L; Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital and Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Gray KJ; Division of Maternal-Fetal Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Wilkins-Haug L; Division of Maternal-Fetal Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Guseh S; Division of Maternal-Fetal Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Prenat Diagn ; 41(11): 1460-1466, 2021 Oct.
Article em En | MEDLINE | ID: mdl-34426984
ABSTRACT

OBJECTIVE:

Preconception and prenatal carrier screening is designed to provide reproductive risk information, but carriers for some autosomal recessive or X-linked conditions also have personal health risks. This study investigated the prevalence of and inclusion of personal health implications in pre- and post-test counseling.

METHODS:

Twelve genetic conditions with personal health risks for carriers included on carrier screening panels but not otherwise screened routinely were identified (e.g., Gaucher disease with Parkinson's disease risk). A retrospective review was performed of patients with a positive carrier screen for one of these conditions at our center from 2012 to 2019.

RESULTS:

Of 6147 individuals that had carrier screening for one of the twelve conditions, 96 (1.56%) did not report a known family history and screened positive for one of the conditions. Testing was ordered largely by reproductive endocrinologists (51.0%) and genetic counselors (35.4%). Most individuals did not receive pre- (96.8%) or post-test (64.6%) counseling about personal health risks. Post-test counseling was performed principally by genetic counselors (97.1%). For carriers of conditions with guidelines for specialist referral, most individuals (75.9%) were referred.

CONCLUSION:

Expanded genetic carrier screening increasingly identifies individuals with personal health implications, but patients are frequently not counseled before or after testing. These findings stress the importance of developing guidelines for practitioners about expanded carrier screening counseling and follow-up.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Aconselhamento Genético / Triagem de Portadores Genéticos Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adult / Female / Humans / Male / Pregnancy Idioma: En Revista: Prenat Diagn Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Aconselhamento Genético / Triagem de Portadores Genéticos Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adult / Female / Humans / Male / Pregnancy Idioma: En Revista: Prenat Diagn Ano de publicação: 2021 Tipo de documento: Article