Congratulations to Dr. Sarah Malecki and Dr. Anne Bassett, who along with two physicians in Toronto, just published an important and high profile commentary in the Canadian Medical Association Journal (CMAJ)!
Closing gaps in care and knowledge for adults with complex genetic conditionsMalecki S, Cohen E, Verma AA, Bassett ASCMAJ 2024 November 4;196:E1267-8. DOI: 10.1503/cmaj.240782
In this commentary, we point out the great need to provide long-term all-round care to adults with complex genetic neurodevelopmental conditions (such as 22q11.2 deletion syndrome). We propose using models of pediatric care in adult medicine, combining multiple specialties and elements of existing programs such as the Toronto Adult Cystic Fibrosis Centre at St. Michael’s Hospital and our Clinic. Multidisciplinary teams led by generalists but include experts from various medical and allied fields will better support the adult patients and decrease the burden on caregivers and primary care professionals.
In addition, we reinforce the importance of obtaining genetic diagnoses for eligible adult patients. Not only do genetic diagnoses provide answers and emotional relief for the patients and their family, they allow for realistic expectations and the delivery of care at early stages of health issues. An increase in genetic testing should then be followed by an improved gathering of population-level data on the genetic diagnoses and outcomes, which would enable better understanding and management.
The points that we discussed are important not only to the affected adults and families, but also have significant financial implications for our publicly-funded healthcare system.