OBJECTIVE: To assess the performance of a standardized, age-based metric for scoring clinical actionability to evaluate conditions for inclusion in newborn screening and compare it with the results from other contemporary methods. STUDY DESIGN: The North Carolina Newborn Exome Sequencing for Universal Screening study developed an age-based, semiquantitative metric to assess the clinical actionability of gene-disease pairs and classify them with respect to age of onset or timing of interventions. This categorization was compared with the gold standard Recommended Uniform Screening Panel and other methods to evaluate gene-disease pairs for newborn genomic sequencing. RESULTS: We assessed 822 gene-disease pairs, enriched for pediatric onset of disease and suspected actionability. Of these, 466 were classified as having childhood onset and high actionability, analogous to conditions selected for the Recommended Uniform Screening Panel core panel. Another 245 were classified as having childhood onset and low to no actionability, 25 were classified as having adult onset and high actionability, 19 were classified as having adult onset and low to no actionability, and 67 were excluded due to controversial evidence and/or prenatal onset. CONCLUSIONS: This study describes a novel method to facilitate decisions about the potential use of genomic sequencing for newborn screening. These categories may assist parents and physicians in making informed decisions about the disclosure of results from voluntary genomic sequencing in children.
OBJECTIVE: To assess the performance of a standardized, age-based metric for scoring clinical actionability to evaluate conditions for inclusion in newborn screening and compare it with the results from other contemporary methods. STUDY DESIGN: The North Carolina Newborn Exome Sequencing for Universal Screening study developed an age-based, semiquantitative metric to assess the clinical actionability of gene-disease pairs and classify them with respect to age of onset or timing of interventions. This categorization was compared with the gold standard Recommended Uniform Screening Panel and other methods to evaluate gene-disease pairs for newborn genomic sequencing. RESULTS: We assessed 822 gene-disease pairs, enriched for pediatric onset of disease and suspected actionability. Of these, 466 were classified as having childhood onset and high actionability, analogous to conditions selected for the Recommended Uniform Screening Panel core panel. Another 245 were classified as having childhood onset and low to no actionability, 25 were classified as having adult onset and high actionability, 19 were classified as having adult onset and low to no actionability, and 67 were excluded due to controversial evidence and/or prenatal onset. CONCLUSIONS: This study describes a novel method to facilitate decisions about the potential use of genomic sequencing for newborn screening. These categories may assist parents and physicians in making informed decisions about the disclosure of results from voluntary genomic sequencing in children.
Authors: Carol Jean Saunders; Neil Andrew Miller; Sarah Elizabeth Soden; Darrell Lee Dinwiddie; Aaron Noll; Noor Abu Alnadi; Nevene Andraws; Melanie LeAnn Patterson; Lisa Ann Krivohlavek; Joel Fellis; Sean Humphray; Peter Saffrey; Zoya Kingsbury; Jacqueline Claire Weir; Jason Betley; Russell James Grocock; Elliott Harrison Margulies; Emily Gwendolyn Farrow; Michael Artman; Nicole Pauline Safina; Joshua Erin Petrikin; Kevin Peter Hall; Stephen Francis Kingsmore Journal: Sci Transl Med Date: 2012-10-03 Impact factor: 17.956
Authors: Lainie Friedman Ross; Laine Friedman Ross; Howard M Saal; Karen L David; Rebecca R Anderson Journal: Genet Med Date: 2013-02-21 Impact factor: 8.822
Authors: Tamara S Roman; Stephanie B Crowley; Myra I Roche; Ann Katherine M Foreman; Julianne M O'Daniel; Bryce A Seifert; Kristy Lee; Alicia Brandt; Chelsea Gustafson; Daniela M DeCristo; Natasha T Strande; Lori Ramkissoon; Laura V Milko; Phillips Owen; Sayanty Roy; Mai Xiong; Ryan S Paquin; Rita M Butterfield; Megan A Lewis; Katherine J Souris; Donald B Bailey; Christine Rini; Jessica K Booker; Bradford C Powell; Karen E Weck; Cynthia M Powell; Jonathan S Berg Journal: Am J Hum Genet Date: 2020-08-26 Impact factor: 11.025
Authors: Catherine Rehder; Lora J H Bean; David Bick; Elizabeth Chao; Wendy Chung; Soma Das; Julianne O'Daniel; Heidi Rehm; Vandana Shashi; Lisa M Vincent Journal: Genet Med Date: 2021-04-29 Impact factor: 8.822
Authors: David Bick; Sarah L Bick; David P Dimmock; Tom A Fowler; Mark J Caulfield; Richard H Scott Journal: Am J Med Genet C Semin Med Genet Date: 2020-12-22 Impact factor: 3.908
Authors: Daniela M DeCristo; Laura V Milko; Julianne M O'Daniel; Ann Katherine M Foreman; Lonna F Mollison; Bradford C Powell; Cynthia M Powell; Jonathan S Berg Journal: Genome Med Date: 2021-03-29 Impact factor: 11.117
Authors: Jonathan S Berg; Jeannette T Bensen; Brooke S Staley; Laura V Milko; Margaret Waltz; Ida Griesemer; Lonna Mollison; Tracey L Grant; Laura Farnan; Myra Roche; Angelo Navas; Alexandra Lightfoot; Ann Katherine M Foreman; Julianne M O'Daniel; Suzanne C O'Neill; Feng-Chang Lin; Tamara S Roman; Alicia Brandt; Bradford C Powell; Christine Rini Journal: Trials Date: 2021-06-14 Impact factor: 2.279
Authors: Laura V Milko; Flavia Chen; Kee Chan; Amy M Brower; Pankaj B Agrawal; Alan H Beggs; Jonathan S Berg; Steven E Brenner; Ingrid A Holm; Barbara A Koenig; Richard B Parad; Cynthia M Powell; Stephen F Kingsmore Journal: NPJ Genom Med Date: 2019-12-10 Impact factor: 8.617