Screening panels are lists of curated genes that we look for when evaluating the risk for an individual to have a certain condition. We envision developing several panels covering different windows of time related to the age of onset and age of action for different conditions.
Actionability & Binning Committee (AC/BC)
Led by Kate Foreman, MS, CGC and is evaluating gene-condition pairs with respect to actionability and age of onset.
- The AC/BC is identifying gene-phenotype pairs for inclusion on the screenings panels and will then place these pairs onto specific age-based panels based on modeling of age of actionability and age of intervention.
- The AC/BC includes 12 core members with extensive prior experience in assessing actionability of gene-disease pairs.
- Members include medical geneticists, pediatricians, bioethicists, clinical and research genetic counselors, and other key researchers and staff, including two past members of the ACMG secondary findings working group, seven current or past members of the ClinGen adult and pediatric Actionability Working Groups, and a past chair of the HRSA Advisory Committee on Heritable Disorders in Newborns and Children.
- Guest content matter experts are invited as needed when considering gene-phenotype pairs where core members do not have sufficient expertise to decide about inclusion on the screening panels. The team is also developing methods to model natural history information such as age of onset of symptoms and age of diagnosis, to facilitate decision-making about which age-based panel to include each condition on.
Expert Deliberative Group (EDG)
This team is composed of 14 internationally recognized experts in genomics, newborn screening, health policy, implementation science, and bioethics from diverse institutions and professional backgrounds provide input on the timing and content of the genetic sequencing panels.
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- Milko LV, O’Daniel JM, DeCristo DM, Crowley SB, Foreman AK, Wallace KE, Mollison LF, Strande NT, Girnary ZS, Boshe LJ, Aylsworth AS, Gucsavas-Calikoglu, M, Frazier DM, Vora NL, Roche MI, Powell BC, Powell CM, Berg JS., An age-based framework for evaluating genome-scale sequencing results in newborn screening. The Journal of pediatrics. 2019 Jun 1;209:68-76. https://doi.org/10.1016/j.jpeds.2018.12.027
- Webber EM, Hunter JE, Biesecker LG, Buchanan AH, Clarke EV, Currey E, Dagan‐Rosenfeld O, Lee K, Lindor NM, Martin CL, Milosavljevic A.. Mittendorf KF, Muessig KR, O’Daniel JM, Patel RY, Ramos EM, Rego S, Slavotinek AM, Sobriera NLM, Weaver MA, Williams MS, Evans JP, Godard KAB, Evidence‐based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen’s Actionability Working Group. Human mutation. 2018 Nov;39(11):1677-85. https://doi.org/10.1002/humu.23631
- Hunter JE, Jenkins CL, Bulkley JE, Gilmore MJ, Lee K, Pak CM, Wallace KE, Buchanan AH, Foreman AK, Freed AS, Goehringer S, Manickam K, Meeks NJL, Ramos EM, Shah N, Steiner RD, Subramanian SL, Trotter T, Webber EM, Williams MS, Powell BC, ClinGen’s Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents. Genetics in Medicine. 2022 Jun 1;24(6):1328-35. https://doi.org/10.1016/j.gim.2022.02.019
- DeCristo DM, Milko LV, O’Daniel JM, Foreman AK, Mollison LF, Powell BC, Powell CM, Berg JS. Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making. Genome Medicine. 2021 Dec;13(1):1-3. https://doi.org/10.1186/s13073-021-00867-1