Update on the SDY Case Registry. Heather MacLeod, MS CGC
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1 Update on the SDY Case Registry Heather MacLeod, MS CGC
2 What is the Sudden Death in the Young (SDY) Case Registry? The SDY Case Registry compiles and stores informa9on about sudden infant and child deaths to help: Count the number and types of sudden deaths up to age 20* Understand the causes and risk factors Inform ways to prevent these deaths *depends on state CDR legislakon
3 SDY Case Registry Goals Establish the incidence of sudden death in the young in the United States Surveillance Investigate causes and risk factors for sudden death in the young Research
4 SDY Case Registry
5 SDY Case Registry Par$cipa$ng states include: California (San Francisco) Delaware Georgia Minnesota New Hampshire New Jersey Nevada Tennessee Virginia (Tidewater Region) Wisconsin (selected jurisdickons)
6 SDY Case Registry Process Data and DNA Samples used for research on causes of SDY
7 Surveillance Update Surveillance started January SDY Cases IdenKfied 1160 Cases Cleaned Next steps: use categorizakon data to determine incidence
8 Research Update
9 Samples EDTA Blood -20 C or -80 C = Heart Liver cryovial Spleen Successful DNA ExtracKon for 99% of samples
10 NHLBI-Funded SDY Researchers Channelopathies and cardiomyopathies among sudden deaths in the young Alfred George and Elizabeth McNally Role of genetic variants in sudden death in the young Prince Kannankeril Integrating genomic and clinical approaches to sudden death in the young Martin Tristani-Firouzi and Mark Yandell
11 Consent and Research GeneKc TesKng 150 Samples at Biorepository Consented 146 Consented for Research GeneKc TesKng 113 Samples Sent for Genome Sequencing
12 Looking Ahead We are here Registry funded for an addikonal 5 year cycle Increase number of states/ jurisdickons Increase resources for consent/ biospecimen ackvikes
13 How Can I Be Involved? Encourage your forensic pathologists to use the SDY Case Registry tools and save biospecimens for DNA banking and/or future genekc teskng Freeze blood in plaskc K2EDTA vacutainers and/or freeze fresh Kssue Encourage your CDR team to use the SDY Case Registry Variables the Case ReporKng System they are accessible to all teams: If you are in a funded state/jurisdickon contact your public health office and offer yourself as a resource
14 Resources
15 Remember if you cannot test, alempt to bank DNA GeneTests: hlps:// Search DNA Banking
16 SDY Case Registry Data CoordinaKng Center Website Website:
17 GeneKc Counselors findagenekccounselor.com "Knight, Laura D" InformaKon Sheet for Families Template for Sample Release from ME/C offices Leler of Medical Necessity for Insurance
18 A potenkal research opkon for pakents and families who have survived a sudden cardiac event at a young age. InformaKon below to contact the Webster lab to learn more about eligibility criteria and hear more about the study. CONTACT INFORMATION: Website: labs.feinberg.northwestern.edu/webster Phone: gregory.webster@northwestern.edu
19 Acknowledgements: SDY Case Registry Centers for Disease Control and PrevenKon (CDC) Carrie Shapiro-Mendoza, Carri Colengim, Alexa Erck Lambert, Sharyn Parks, ChrisKne Olson, Rosemarie Kobau, Niu Tian, and Dave Thurman NaKonal Center for Fatality Review and PrevenKon Heather Dykstra, Esther Shaw, Meghan Faulkner, Linda Poler, Erik Buczkowski and Abby Collier NaKonal InsKtutes of Health (NIH) Jonathan Kaltman, KrisKn Burns, and Vicky Whilemore MPHI Data CoordinaKng Center and University of Michigan Biorepository Meghan Faulkner, Heather MacLeod, Mark Russell, Alissa Novak, Heather Dykstra, and Esther Shaw SDY Registry Grantees Minnesota, Nevada, New Jersey, New Hampshire, Wisconsin, Delaware, Georgia, Tennessee, San Francisco County in California, Tidewater Region of Virginia
20 Acknowledgements: SDY Case Registry SDY Advisory Lisa Bateman, Robert Campbell, Sumeet Chugh, Laura Crandall, Sam Gulino, Gardiner Lapham, Martha Lopez-Anderson, Kurt Nolte, David Thurman and Vicki Veler SDY Autopsy Protocol Karen Chancellor, Beau Clark, Tim Corden, Kim Fallon, Corinne Fligner, Sam Gulino, Wendy Gunther, Jennifer Hammers, Owen Middleton and Michael Murphy SDY Ethicists: Amy McGuire and Sonia Suter
21 QuesKons? Heather MacLeod
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