Transitions and Health Care of Adults with Genetic Syndromes
September 11, 2024 | 1:00 – 2:00 pm ET
Description:
In this session, our presenters will provide perspectives on healthcare of adults with common genetic syndromes (Down syndrome, RASopathies / Costello syndrome, and 22q11 deletion syndrome).
With many clinical geneticists based at pediatric hospitals, transition of subspecialty and even primary care for adult patients with multisystemic needs presents an almost universal challenge for healthcare providers and families alike. Families of children with medical complexity related to rare syndromes often form close bonds with their pediatric providers, making “aging out” of pediatric care and finding a new team a daunting task. Having an improved understanding of adult-specific issues and outcomes can improve care for adults and pediatric patients alike–-families of newly diagnosed patients often desire to know as much as possible about what to expect, including into adulthood.
This information is valuable to practicing geneticists because:
- Current capacity of existing multidisciplinary clinics can only accommodate medical care of 5% of the adults with Down syndrome in the United States. Medical geneticists with knowledge of genetic syndromes can work to fill this gap (Santoro et al. 2021).
- Adult healthcare guidelines exist (Tsou et al. 2020); adherence to general population management guidelines for adults with Down syndrome (Jensen et al. 2021) and to AAP guidelines (Santoro et al. 2023) is low.
- Multidisciplinary team approach improves care of those with 22q11.2 deletion syndrome (Hickey et al. 2020).
- Using some key syndromes as example cases, our proposal will focus on two aspects of care of adults with genetic syndromes.
First, we will review key aspects of transition planning for individuals with genetic syndromes. Transition is a broad topic including aspects of guardianship, graduation from high school to adult service organizations, and has implications on availability of appropriately-trained medical specialists. The transition time frame has gained increased awareness and there are best practices on steps to include and increasing resources. Transition to adulthood is a multifaceted process that requires integration of numerous domains within a young person's life, including their health care. For children with special health care needs, the transition process can be markedly more difficult to navigate. This is especially true for children with Down syndrome (DS) who receive fewer transition planning services. Survey of parents of individuals with Down syndrome identified that 5% or less reported completing one of the core transition outcomes: transition readiness assessment, portable medical summary, or written transition plan (VanZant and McCormick 2021). One of our speakers is a Med-Peds trained internist specializing in Transition care.
Additionally, we will focus on aspects of healthcare maintenance for three specific genetic syndromes. We have chosen these syndromes because they are relatively common conditions, which are likely to be experienced by practicing clinical geneticists and genetic counselors. These three syndromes also demonstrate genetic conditions with both congenital conditions in childhood, and adult-onset conditions that may develop later in life and are important for clinicians to be aware of. Our team includes geneticists at specialty clinics in three different locations, with varied clinic models and approaches. Speakers can also share practical advice on how to build a medical home for adults with genetic syndromes.
Target Audience
All healthcare professionals interested in the diagnosis, management, treatment, and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. The ACMG Annual Meeting is targeted for the following professionals:
- Medical and clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
- Laboratory directors and technicians who conduct genetic testing.
- Researchers involved in the discovery of genetic disorders and treatments.
- Clinical, laboratory and research trainees of genetics and all biomedical sciences.
- Any healthcare and public health professionals who have an interest in medical and clinical genetics and genomics.
- Advocates for patients with genetic conditions and their families.
Agenda
Presentations followed by live Q&A.
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Presentation
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Presenter
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Affiliation
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Welcome and Introduction
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Nicole Weaver, MD
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Cincinnati Children's Hospital Medical Center
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Adolescents, Adults, and Aging in Down syndrome
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Stephanie Santoro, MD
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Massachusetts General Hospital
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Best Practices in Supporting a 'Healthy' Transition from Pediatric to Adult Medical Homes
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Andrew McCormick, MD
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University of Pittsburgh School of Medicine
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22q11.2 Deletion Syndrome: Management from Transition and Across the Lifespan
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Anne Bassett, CM, MD, FRCPC
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The Dalglish Family 22q Clinic for Adults
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RASopathies Grown up: Considerations for Health care of Adults
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Nicole Weaver, MD
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Cincinnati Children's Hospital Medical Center
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Learning Objectives
At the conclusion of this session, participants should be able to:
- Discuss the management of adults with 22q11.2 microdeletion from transition and across the lifespan.
- Discuss management of adults with RASopathies (e.g. Costello), gaps in knowledge of best practices for care of adults.
- Review existing health supervision guidelines for adults with Down syndrome and unique aspects of care (e.g. dementia).
- Explain the key aspects of the transition period, resources from the general population, especially genetic syndromes.
Meet the Faculty
Andrew McCormick, MD, UPMC Children’s Hospital of Pittsburgh
Anne Bassett, MD, Toronto General Hospital
Nicole Weaver, MD, Cincinnati Children's Medical Center
Stephanie Santoro, MD, Massachusetts General Hospital