The return of genetic results (RoR) to participants, enrolled as children, in autism research remains a complex process. Existing recommendations offer limited guidance on the use of genetic research results for clinical care. We highlight current challenges with RoR and illustrate how the use of a guiding framework drawn from existing literature facilitates RoR and the clinical integration of genetic research results. We report a case series ( = 16) involving the return of genetic results to participants in large genomics studies in Autism Spectrum Disorders (ASD). We outline the framework that guided RoR and facilitated integration into clinical care pathways. We highlight specific cases to illustrate challenges that were, or could have been, resolved through this framework. The case series demonstrates the ethical, clinical and practical difficulties of RoR in ASD genomic studies for participants enrolled as children. Challenges were resolved using pre-established framework to guide RoR and incorporate research genetic results into clinical care. We suggest that optimal use of genetic research results relies on their integration into individualized care pathways for participants. We offer a framework that attempts to bridge the gap between research and healthcare in ASD.
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http://dx.doi.org/10.3390/jpm11080755 | DOI Listing |
Eur J Surg Oncol
December 2024
Department of Anatomy, Medicine and Surgery, University of Malta, Msida, MSD2080, Malta.
Introduction: Current trends of delaying childbearing and the increasing incidence of endometrial cancer in nulliparous woman necessitate research and development of fertility sparing treatments. Hormonal therapy with progestins offers an alternative to surgical treatment for a select group of patients of reproductive-age, who wish to preserve their reproductive potential.
Materials And Methods: The study evaluates the effectiveness of medroxyprogesterone acetate therapy in patients with early-stage endometrial cancer, atypical endometrial hyperplasia or atypical polypoid adenomyoma, seeking to preserve fertility.
Eur J Paediatr Neurol
January 2025
Department of Pediatric Neurology, University Children's Hospital and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany.
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Department of Medicine, Long Island Jewish Forest Hills (Northwell Health), Forest Hills, NY.
Background: West Nile virus (WNV), although underdiagnosed, is the most common mosquito-borne disease and the second most common cause of viral encephalitis in the United States. Fewer than 1% of those infected develop neuroinvasive disease.
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Turk J Haematol
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Department of Transplant, Mayo Clinic Florida, Jacksonville, Florida, USA.
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