Browsing by Author "Fitzgerald-Butt, Sara"

Now showing 1 - 2 of 2
  • Thumbnail Image
    Item
    A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices
    (Elsevier, 2023-04-29) Durbin, Matthew D.; Helvaty, Lindsey R.; Li, Ming; Border, William; Fitzgerald-Butt, Sara; Garg, Vidu; Geddes, Gabrielle C.; Helm, Benjamin M.; Lalani, Seema R.; McBride, Kim L.; McEntire, Alexis; Mitchell, Dana K.; Murali, Chaya N.; Wechsler, Stephanie B.; Landis, Benjamin J.; Ware, Stephanie M.; Pediatrics, School of Medicine
    Purpose: For patients with congenital heart disease (CHD), the most common birth defect, genetic evaluation is not universally accepted, and current practices are anecdotal. Here, we analyzed genetic evaluation practices across centers, determined diagnostic yield of testing, and identified phenotypic features associated with abnormal results. Methods: This is a multicenter cross-sectional study of 5 large children's hospitals, including 2899 children ≤14 months undergoing surgical repair for CHD from 2013 to 2016, followed by multivariate logistics regression analysis. Results: Genetic testing occurred in 1607 of 2899 patients (55%). Testing rates differed highly between institutions (42%-78%, P < .001). Choice of testing modality also differed across institutions (ie, chromosomal microarray, 26%-67%, P < .001). Genetic testing was abnormal in 702 of 1607 patients (44%), and no major phenotypic feature drove diagnostic yield. Only 849 patients were seen by geneticists (29%), ranging across centers (15%-52%, P < .001). Geneticist consultation associated with increased genetic testing yield (odds ratio: 5.7, 95% CI 4.33-7.58, P < .001). Conclusion: Genetics evaluation in CHD is diagnostically important but underused and highly variable, with high diagnostic rates across patient types, including in infants with presumed isolated CHD. These findings support recommendations for comprehensive testing and standardization of care.
  • Thumbnail Image
    Item
    The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results
    (Elsevier, 2019-04-04) Bombard, Yvonne; Brothers, Kyle B.; Fitzgerald-Butt, Sara; Garrison, Nanibaa’ A.; Jamal, Leila; James, Cynthia A.; Jarvik, Gail P.; McCormick, Jennifer B.; Nelson, Tanya N.; Ormond, Kelly E.; Rehm, Heidi L.; Richer, Julie; Souzeau, Emmanuelle; Vassy, Jason L.; Wagner, Jennifer K.; Levy, Howard P.; Medical and Molecular Genetics, School of Medicine
    The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant's clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors