Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. Issue 2 (27th October 2020)

• Record Type: Journal Article
• Authors: Studwell, Courtney M.; Kelley, Emily G.; Sinsheimer, Janet S.; Palmer, Christina G. S.; LeBlanc, Kimberly
• Other Names: Acosta Maria T investigator.; Adam Margaret investigator.; Adams David R. investigator.; Agrawal Pankaj B. investigator.; Alejandro Mercedes E. investigator.; Alvey Justin investigator.; Amendola Laura investigator.; Andrews Ashley investigator.; Ashley Euan A. investigator.; Azamian Mahshid S. investigator.; Bacino Carlos A. investigator.; Bademci Guney investigator.; Baker Eva investigator.; Balasubramanyam Ashok investigator.; Baldridge Dustin investigator.; Bale Jim investigator.; Bamshad Michael investigator.; Barbouth Deborah investigator.; Bayrak‐Toydemir Pinar investigator.; Beck Anita investigator.; Beggs Alan H. investigator.; Behrens Edward investigator.; Bejerano Gill investigator.; Bennet Jimmy investigator.; Berg‐Rood Beverly investigator.; Bernstein Jonathan A. investigator.; Berry Gerard T. investigator.; Bican Anna investigator.; Bivona Stephanie investigator.; Blue Elizabeth investigator.; Bohnsack John investigator.; Bonnenmann Carsten investigator.; Bonner Devon investigator.; Botto Lorenzo investigator.; Boyd Brenna investigator.; Briere Lauren C. investigator.; Brokamp Elly investigator.; Brown Gabrielle investigator.; Burke Elizabeth A. investigator.; Burrage Lindsay C. investigator.; Butte Manish J. investigator.; Byers Peter investigator.; Byrd William E. investigator.; Carey John investigator.; Carrasquillo Olveen investigator.; Chang Ta Chen Peter investigator.; Chanprasert Sirisak investigator.; Chao Hsiao‐Tuan investigator.; Clark Gary D. investigator.; Coakley Terra R. investigator.; Cobban Laurel A. investigator.; Cogan Joy D. investigator.; Coggins Matthew investigator.; Cole F. Sessions investigator.; Colley Heather A. investigator.; Cooper Cynthia M. investigator.; Cope Heidi investigator.; Craigen William J. investigator.; Crouse Andrew B. investigator.; Cunningham Michael investigator.; D'Souza Precilla investigator.; Dai Hongzheng investigator.; Dasari Surendra investigator.; Davids Mariska investigator.; Dayal Jyoti G. investigator.; Deardorff Matthew investigator.; Dell'Angelica Esteban C. investigator.; Dhar Shweta U. investigator.; Dipple Katrina investigator.; Doherty Daniel investigator.; Dorrani Naghmeh investigator.; Douine Emilie D. investigator.; Draper David D. investigator.; Duncan Laura investigator.; Earl Dawn investigator.; Eckstein David J. investigator.; Emrick Lisa T. investigator.; Eng Christine M. investigator.; Esteves Cecilia investigator.; Estwick Tyra investigator.; Falk Marni investigator.; Fernandez Liliana investigator.; Ferreira Carlos investigator.; Fieg Elizabeth L. investigator.; Findley Laurie C. investigator.; Fisher Paul G. investigator.; Fogel Brent L. investigator.; Forghani Irman investigator.; Fresard Laure investigator.; Gahl William A. investigator.; Glass Ian investigator.; Godfrey Rena A. investigator.; Golden‐Grant Katie investigator.; Goldman Alica M. investigator.; Goldstein David B. investigator.; Grajewski Alana investigator.; Groden Catherine A. investigator.; Gropman Andrea L. investigator.; Gutierrez Irma investigator.; Hahn Sihoun investigator.; Hamid Rizwan investigator.; Hanchard Neil A. investigator.; Hassey Kelly investigator.; Hayes Nichole investigator.; High Frances investigator.; Hing Anne investigator.; Hisama Fuki M. investigator.; Holm Ingrid A. investigator.; Hom Jason investigator.; Horike‐Pyne Martha investigator.; Huang Alden investigator.; Huang Yong investigator.; Isasi Rosario investigator.; Jamal Fariha investigator.; Jarvik Gail P. investigator.; Jarvik Jeffrey investigator.; Jayadev Suman investigator.; Johnston Jean M. investigator.; Karaviti Lefkothea investigator.; Kelley Emily G. investigator.; Kennedy Jennifer investigator.; Kiley Dana investigator.; Kohane Isaac S. investigator.; Kohler Jennefer N. investigator.; Krakow Deborah investigator.; Krasnewich Donna M. investigator.; Kravets Elijah investigator.; Korrick Susan investigator.; Koziura Mary investigator.; Krier Joel B. investigator.; Lalani Seema R. investigator.; Lam Byron investigator.; Lam Christina investigator.; Lanpher Brendan C. investigator.; Lanza Ian R. investigator.; Lau C. Christopher investigator.; LeBlanc Kimberly investigator.; Lee Brendan H. investigator.; Lee Hane investigator.; Levitt Roy investigator.; Lewis Richard A. investigator.; Lincoln Sharyn A. investigator.; Liu Pengfei investigator.; Liu Xue Zhong investigator.; Longo Nicola investigator.; Loo Sandra K. investigator.; Loscalzo Joseph investigator.; Maas Richard L. investigator.; Macnamara Ellen F. investigator.; MacRae Calum A. investigator.; Maduro Valerie V. investigator.; Majcherska Marta M. investigator.; Malicdan May Christine V. investigator.; Mamounas Laura A. investigator.; Manolio Teri A. investigator.; Mao Rong investigator.; Maravilla Kenneth investigator.; Markello Thomas C. investigator.; Marom Ronit investigator.; Marth Gabor investigator.; Martin Beth A. investigator.; Martin Martin G. investigator.; Martínez‐Agosto Julian A. investigator.; Marwaha Shruti investigator.; McCauley Jacob investigator.; McConkie‐Rosell Allyn investigator.; McCormack Colleen E. investigator.; McCray Alexa T. investigator.; McGee Elisabeth investigator.; Mefford Heather investigator.; Merritt J. Lawrence investigator.; Might Matthew investigator.; Mirzaa Ghayda investigator.; Morava Eva investigator.; Moretti Paolo M. investigator.; Morimoto Marie investigator.; Mulvihill John J. investigator.; Murdock David R. investigator.; Nakano‐Okuno Mariko investigator.; Nath Avi investigator.; Nelson Stan F. investigator.; Newman John H. investigator.; Nicholas Sarah K. investigator.; Nickerson Deborah investigator.; Novacic Donna investigator.; Oglesbee Devin investigator.; Orengo James P. investigator.; Pace Laura investigator.; Pak Stephen investigator.; Pallais J. Carl investigator.; Palmer Christina G.S. investigator.; Papp Jeanette C. investigator.; Parker Neil H. investigator.; Phillips John A. investigator.; Posey Jennifer E. investigator.; Potocki Lorraine investigator.; Pusey Barbara N. investigator.; Quinlan Aaron investigator.; Raskind Wendy investigator.; Raja Archana N. investigator.; Rao Deepak A. investigator.; Renteria Genecee investigator.; Reuter Chloe M. investigator.; Rives Lynette investigator.; Robertson Amy K. investigator.; Rodan Lance H. investigator.; Rosenfeld Jill A. investigator.; Rosenwasser Natalie investigator.; Ruzhnikov Maura investigator.; Sacco Ralph investigator.; Sampson Jacinda B. investigator.; Samson Susan L. investigator.; Saporta Mario investigator.; Scott C. Ron investigator.; Schaechter Judy investigator.; Schedl Timothy investigator.; Schoch Kelly investigator.; Scott Daryl A. investigator.; Sharma Prashant investigator.; Shashi Vandana investigator.; Shin Jimann investigator.; Signer Rebecca investigator.; Sillari Catherine H. investigator.; Silverman Edwin K. investigator.; Sinsheimer Janet S. investigator.; Sisco Kathy investigator.; Smith Edward C. investigator.; Smith Kevin S. investigator.; Solem Emily investigator.; Solnica‐Krezel Lilianna investigator.; Spillmann Rebecca C. investigator.; Stoler Joan M. investigator.; Stong Nicholas investigator.; Sullivan Jennifer A. investigator.; Sullivan Kathleen investigator.; Sun Angela investigator.; Sutton Shirley investigator.; Sweetser David A. investigator.; Sybert Virginia investigator.; Tabor Holly K. investigator.; Tamburro Cecelia P. investigator.; Tan Queenie K.‐G. investigator.; Tekin Mustafa investigator.; Telischi Fred investigator.; Thorson Willa investigator.; Tifft Cynthia J. investigator.; Toro Camilo investigator.; Tran Alyssa A. investigator.; Tucker Brianna M. investigator.; Urv Tiina K. investigator.; Vanderver Adeline investigator.; Velinder Matt investigator.; Viskochil Dave investigator.; Vogel Tiphanie P. investigator.; Wahl Colleen E. investigator.; Wallace Stephanie investigator.; Walley Nicole M. investigator.; Walsh Chris A. investigator.; Wener Mark investigator.; Wenger Tara investigator.; Perry Katherine Wesseling investigator.; Westerfield Monte investigator.; Wheeler Matthew T. investigator.; Whitlock Jordan investigator.; Wolfe Lynne A. investigator.; Woods Jeremy D. investigator.; Yamamoto Shinya investigator.; Yang John investigator.; Yu Guoyun investigator.; Zastrow Diane B. investigator.; Zhao Chunli investigator.; Zuchner Stephan investigator.;
• Is Part Of: Journal of genetic counseling. Volume 30:Issue 2(2021)
• Page Start: 439
• Page End: 447
• Publication Date: 2020-10-27
• Subjects: communication -- family -- family communication -- genetic counseling -- genetic results -- undiagnosed disease; Genetic counseling -- Periodicals; 616.042
• DOI: 10.1002/jgc4.1329
• Languages: English
• ISSNs: 1059-7700

Abstract

Abstract: Genetic results have implications not only for the individual, but also for their family members. Research on family communication of genetic results has primarily focused on families affected by adult‐onset, dominant conditions as well as more common genetic conditions such as familial hypercholesterolemia, cardiomyopathies, and genetic hearing loss. This study therefore aimed to characterize genetic result communication in families with rare and undiagnosed conditions and identify factors that influence communication. One hundred and forty‐two individuals who received a diagnosis from the Undiagnosed Diseases Network (UDN), a study focused on providing diagnoses to individuals with undiagnosed conditions, were eligible to complete a survey assessing genetic results communication. Survey items assessed if communication was discussed with healthcare providers, with whom participants communicated genetic testing, why they chose to communicate with these family members, and what information they communicated. All respondents (5 adult UDN participants, 38 parents/guardians of UDN participants, and 2 identifying as both) shared genetic results with at least one family member. Individuals who identified as both were considered exclusively adult participants for the purpose of these analyses. Adult participants and parents/guardians of participants reported high levels of understanding (96%), utility (96%), and comfort communicating genetic results (89%). Additionally, parents/guardians were more likely to disclose genetic results due to a general desire to share (60% of parents/guardians vs. 14% adult participants), while adult participants reported that they shared results to communicate risk to family members (86% of adult participants vs. 24% of parents/guardians). Many respondents did not recall discussing with a healthcare provider how (64%) or what (42%) to communicate about results. The results of this study provide insight into the practice of result communication by individuals with rare and previously undiagnosed conditions, which can ideally inform development of more effective counseling strategies and guidelines to aid family communication.