Riyana Babul‐Hirji

Understanding the decision of parents to opt‐out of medically actionable secondary findings offered through genome sequencing

A. G. Hansen, Stephanie Luca, Olivia Moran, Riyana Babul‐Hirji et autres

Genomic sequencing (GS) for patients and families with rare disease creates the opportunity for precise diagnosis as well as the option to learn about medically actionable secondary findings (SF). Debate persists internationally on how to manage the analysis and disclosure of SF, …

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P479: Including the excluded: Establishing a culturally sensitive personal utility measure for genetic testing

Erin Hsue, Stephanie Luca, Joyce Yan, Kayla Krolikowski et autres

Results: In May 2024, the Icelandic Ministry of Health enacted Regulation No. 688/2024, establishing the education, rights, responsibilities, and conditions for employment of genetic counselors.The regulation specifies that applicants must hold a minimum of a 2-year master's degree in genetic counseling from …

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P563: Adolescents’ experiences and perspectives of genetic testing and its personal utility

Daniel Assamad, Stephanie Luca, Elise Poole, Lucie Dupuis et autres

As genetic testing becomes more widely used in adolescent medicine, the number of teenagers with identified genetic diagnoses continues to increase. These technologies may be particularly useful in children and adolescents since early diagnosis, risk identification and tailored intervention can result in …

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P866: Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing

Katharine Fooks, Lydia Vermeer, Elise Poole, Stephanie Luca et autres

Secondary findings (SF) are defined as genetic test results that are actively sought but unrelated to the primary indication for testing. Approximately 1-4% of individuals having genome-wide sequencing (GWS) receive a medically actionable SF. The American College of Medical Genetics and Genomics …

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P492: Optimizing access to genetics services for individuals with autism spectrum disorder through a “genetic-counselor-first” assessment model

Riyana Babul‐Hirji, Raman Sondhi, Roberto Mendoza‐Londono

Genetic testing by primary care pediatricians is becoming more commonplace for individuals with autism spectrum disorder (ASD), however lengthy waiting times for a genetics assessment remains a barrier. Identifying whether ASD in a child is ‘non-syndromic’ [isolated] or ‘ASD plus’ can help …

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P873: “If you look for a problem, you’ll find one”: A qualitative study to understand why parents/adult patients decline secondary findings

Abigail Hansen, Stephanie Luca, Olivia M. Moran, Riyana Babul‐Hirji et autres

Genome-wide Sequencing (GWS) allows for identification of disease-causing genetic variants and may reveal secondary findings (SF). SF are variants in genes unrelated to the initial indication for testing but are associated with risk for other medically actionable conditions and are becoming more …

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Genetic Testing and Counseling for Inherited Bleeding and Clotting Disorders

Riyana Babul‐Hirji, Vanessa Bouskill, Jennifer Vincelli, Manuel D Carcao

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45,X/46, XY mosaicism: Clinical manifestations and long term follow‐up

Ebba Alkhunaizi, Jenna Plamondon Albrecht, Mahmoud Aarabi, Selma Feldman Witchel et autres

45,X/46,XY chromosomal mosaicism presents a range of clinical manifestations, including phenotypes from Turner syndrome through genital abnormalities to apparently unaffected phenotypic males; however, the full clinical spectrum has not yet been fully delineated since prior studies on the clinical phenotype and associated …

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CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence

Karina da Costa Silveira, Inara Chacon Fonseca, Connor Oborn, Parker Wengryn et autres

CYP26B1 metabolizes retinoic acid in the developing embryo to regulate its levels. A limited number of individuals with pathogenic variants in CYP26B1 have been documented with a varied phenotypic spectrum, spanning from a severe manifestation involving skull anomalies, craniosynostosis, encephalocele, radio-humeral fusion, …

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Challenges experienced by genetic counselors while they provided counseling about mosaic embryos

Olivia M. Moran, Kayla Flamenbaum, Diane Myles Reid, Jeanna Marie McCuaig et autres

Objective: To survey genetic counselors (GCs) who have counseled about mosaic embryos regarding the challenges they faced in counseling this patient population and assess their need for more resources to support their practice. Design: Self-administered online survey. Setting: Academic university. Study Population: …

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Parental Preferences for Expanded Newborn Screening: What Are the Limits?

Nicole Si Yan Liang, Abby Watts-Dickens, David A. Chitayat, Riyana Babul‐Hirji et autres

The use of next-generation sequencing technologies such as genomic sequencing in newborn screening (NBS) could enable the detection of a broader range of conditions. We explored parental preferences and attitudes towards screening for conditions for which varying types of treatment exist with …

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Barriers in applying to genetic counseling Master's degree programs: Perceptions of prospective applicants when compared with Canadian admissions committee members

Laura A Zahavich, Riyana Babul‐Hirji

The goal of this study was to identify potential barriers in applying to a genetic counseling (GC) Master's degree program to inform strategies for increasing diversity and inclusiveness in the GC student recruitment process. Participants included prospective GC program applicants and admissions …

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