Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen’s actionability working group.
Webber EM, Hunter JE, Lee K, Lindor N, Martin CL, Milosavljevic A, Mittendorf K, Muessig M, O’Daniel J, Patel R, Ramos EM, Rego S, Slavotinek A, Sobriera N, Weaver M, Williams MS, Biesecker LG, Buchanan A, Clarke E, Currey E, Dagan-Rosenfeld O, Goddard KAB, Evans JP.
Hum Mutat 2018 Nov;39(11):1677-1685. PMCID: PMC6211797
Implementing universal Lynch syndrome screening (IMPULSS): protocol for a multi-site study to identify strategies to implement, adapt, and sustain genomic medicine programs in different organizational contexts.
Rahm AK, Cragun D, Hunter JE, Epstein MM, Lowery J, Lu CY, Pawloski PA, Sharaf RN, Liang SY, Burnett-Hartman AN, Gudgeon JM, Hao J, Snyder S, Gogoi R, Ladd I, Williams MS.
BMC Health Serv Res. 2018 Oct 30;18(1):824.
doi: 10.1186/s12913-018-3636-2
PMID: 30376847; PMCID: PMC6208012.
A case for expanding carrier testing to include actionable X-linked disorders.
Rope A, Kauffman T, Himes P, Amendola L, Punj S, Akkari Y, Potter A, Davis JV, Schneider J, Reiss JA, Gilmore MJ, McMullen CK, Nickerson DA, Richards CS, Jarvik GP, Wilfond BS, Goddard KAB.
Clinical Case Reports 2018 Sep 19;6(11):2092-2095. PMCID: PMC6230667
The clinical sequencing evidence-generating research (CSER) consortium: Integrating genomic sequencing in diverse and medically underserved populations.
Amendola LM, Berg JS, Horowitz CR, Angelo F, Benson JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller Lich K, Joseph G, Kenny EE, Koenig BA, Knight SJ, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein M, Wilfond BS, Hindorff LA, Plon SE, Jarvik GP.
Am J Hum Genet 2018 Sept 6;103(3):319-327. PMCID: PMC6128306
The Use of 5-Alpha Reductase Inhibitors to Manage Benign Prostatic Hyperplasia and the Risk of All-cause Mortality.
Wallner LP, DiBello JR, Li BH, Van Den Eeden SK, Weinmann S, Ritzwoller DP, Abell JE, D'Agostino R Jr, Loo RK, Aaronson DS, Horwitz RI, Jacobsen SJ.
Urology. 2018 Sep;119:70-78. [Epub 2018 Jun 12]
Why patients decline genomic sequencing studies: Experiences from the CSER Consortium.
Amendola LM, Robinson JO, Hart R, Biswas S, Lee K, Bernhardt BA, East K, Gilmore MJ, Kauffman TL, Lewis KL, Roche M, Scollon S, Wynn J, Blout C.
J Genet Couns. 2018 Sep;27(5):1220-1227.
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
Porter K, Kauffman T, Koenig B, Lewis K, Rehm H, Richards CS, Strande N, Tabor H, Wolf S, Yang Y, Amendola L, Azzariti D, Berg J, Bergstrom K, Biesecker L, Biswas S, Bowling K, Chung W, Clayton E, Conlin L, Cooper G, Dulik M, Garraway L, Ghazani A, Green R, Hiatt S, Jamal S, Jarvik GP, Goddard KAB, Wilfond B, members of the CSER Actionability and Return of Results Work Group.
Molecular Genetics & Genomic Medicine 2018 Aug 21. PMCID: PMC6305639
The clinical sequencing evidence-generating research consortium: Integrating genomic sequencing in diverse and medically underserved populations.
Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA, CSER consortium, Plon SE, Jarvik GP.
Am J Hum Genet 2018 Sep 6;103(3):319-327. PMCID: PMC6128306 [Available 2019 Mar 06]
Patient and provider perspectives on adherence to and care coordination of Lynch syndrome surveillance recommendations: findings from qualitative interviews.
Schneider JL, Goddard KAB, Muessig KR, Davis JV, Rope AF, Hunter JE, Peterson SK, Acheson LS, Syngal S, Wiesner GL, Reiss JA.
Hered Cancer Clin Pract 2018 May 10. PMCID: PMC5946437 [eCollection 2018]
Returning negative results to individuals in a genomic screening program: Lessons learned.
Butterfield RM, Evans JP, Rini C, Kuczynski K, Waltz M, Cadigan RJ, Goddard KAB, Muessig KR, Henderson GE.
Genet Med 2018 June 6. [Epub 2018 June 6]
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
Punj S, Akkari Y, Huang J, Yang F, Creason A, Pak C, Potter A, Dorschner MO, Nickerson DA, Robertson PD, Jarvik GP, Amendola LM, Schleit J, Simpson DK, Rope AF, Reiss J, Kauffman T, Gilmore MJ, Himes P, Wilfond B, Goddard KAB, Richards CS.
Am J Hum Genet 2018 May 3. pii: S0002-9297(18)30136-8. [Epub 2018 May 3]
LSD1 activates a lethal prostate cancer gene network independently of its demethylase function.
Sehrawat A, Gao L, Wang Y, Bankhead A 3rd, McWeeney SK, King CJ, Schwartzman J, Urrutia J, Bisson WH, Coleman DJ, Joshi SK, Kim DH, Sampson DA, Weinmann S, Kallakury BVS, Berry DL, Haque R, Van Den Eeden SK, Sharma S, Bearss J, Beer TM, Thomas GV, Heiser LM, Alumkal JJ.
Proc Natl Acad Sci USA. 2018 May 1;115(18):E4179-E4188. [Epub 2018 Mar 26]
Lessons learned from a study of genomics-based carrier screening for reproductive decision making.
Wilfond BS, Kauffman TL, Jarvik GP, Reiss JA, Richards CS, McMullen C, Gilmore M, Himes P, Kraft SA, Porter KM, Schneider JL, Punj S, Leo MC, Dickerson JF, Lynch FL, Clarke E, Rope AF, Lutz K, Goddard KAB.
Health Aff (Millwood) 2018 May;37(5):809-816.
Patient actions and reactions after receiving negative results from expanded carrier screening.
Kraft SA, Schneider JL, Leo MC, Kauffman TL, Davis JV, Porter KM, McMullen CK, Wilfond BS, Goddard KAB.
Clin Genet 2018 May;93(5):962-971. PMCID: PMC5899643
Myocarditis and pericarditis are rare following live viral vaccinations in adults.
Kuntz J, Crane B, Weinmann S, Naleway AL; Vaccine Safety Datalink Investigator Team.
Vaccine. 2018 Mar 14;36(12):1524-1527. [Epub 2018 Feb 15]
Development and Validation of a Novel Integrated Clinical-Genomic Risk Group Classification for Localized Prostate Cancer.
Spratt DE, Zhang J, Santiago-Jiménez M, Dess RT, Davis JW, Den RB, Dicker AP, Kane CJ, Pollack A, Stoyanova R, Abdollah F, Ross AE, Cole A, Uchio E, Randall JM, Nguyen H, Zhao SG, Mehra R, Glass AG, Lam LLC, Chelliserry J, du Plessis M, Choeurng V, Aranes M, Kolisnik T, Margrave J, Alter J, Jordan J, Buerki C, Yousefi K, Haddad Z, Davicioni E, Trabulsi EJ, Loeb S, Tewari A, Carroll PR, Weinmann S, Schaeffer EM, Klein EA, Karnes RJ, Feng FY, Nguyen PL.
J Clin Oncol 2018 Feb 20;36(6):581-590. [Epub 2017 Nov 29]
Time costs for genetic counseling in preconception screening with genome sequencing.
Lynch FL, Himes P, Gilmore MJ, Morris E, Kauffman TL, Shuster E, Wilfond BS, Reiss JA, Dickerson J, Leo MC, Schneider J, Davis J, McMullen C, Goddard KAB.
J Genet Couns 2018 Feb 8. [Epub 2018 Feb 8]
Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings.
Christensen KD, Bernhardt BA, Jarvik GP, Hindorff LA, Ou J, B Biswas S, Powell BC, Grundmeier RW, Machini K, Karavite DJ, Pennington JW, Krantz ID, Berg JS, Goddard KAB.
Genet Med 2018 Feb 1.
Human Papillomavirus Vaccine Effectiveness Against Incident Genital Warts Among Female Health-Plan Enrollees, United States.
Hariri S, Schuler MS, Naleway AL, Daley MF, Weinmann S, Crane B, Newcomer SR, Tolsma D, Markowitz LE.
Am J Epidemiol 2018 Feb 1;187(2):298-305.
Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results.
Kraft SA, McMullen CK, Porter KM, Kauffman TL, Davis JV, Schneider JL, Goddard KAB, Wilfond BS.
Am J Med Genet Part A 2018 Feb;176(2):376-385
Cost Effectiveness of Age-Specific Screening Intervals for People with Family Histories of Colorectal Cancer.
Naber SK, Kuntz KM, Henrikson NB, Williams MS, Calonge N, Goddard KAB, Zallen DT, Ganiats TG, Webber EM, Janssens ACJW, van Ballegooijen M, Zauber AG, Lansdorp-Vogelaar I.
Gastroenterology 2018 Jan;154(1):105-116.e20. [Epub 2017 Sep 27]
Assessment of willingness to pay for expanded carrier screening among women and couples undergoing preconception carrier screening.
Clarke EV, Schneider JL, Lynch F, Kauffman TL, Leo MC, Rosales AG, Dickerson JF, Shuster E, Wilfond B, Goddard KAB.
Journal of Medical Genetics 2018;PLoS ONE 13(7):e0200139.
Primary ovarian insufficiency and adolescent vaccination.
Naleway A, Mittendorf KF, Irving S, Henninger M, Crane B, Smith N, Daley M, Gee J.
Pediatrics. 2018. 142, e20180943. [abstract]