TY - JOUR
T1 - Genetic counselor roles in the undiagnosed diseases network research study
T2 - Clinical care, collaboration, and curation
AU - Undiagnosed Diseases Network
AU - Kohler, Jennefer N.
AU - Kelley, Emily G.
AU - Boyd, Brenna M.
AU - Sillari, Catherine H.
AU - Marwaha, Shruti
AU - Wheeler, Matthew T.
AU - Acosta, Maria T.
AU - Adam, Margaret
AU - Adams, David R.
AU - Agrawal, Pankaj B.
AU - Alejandro, Mercedes E.
AU - Alvey, Justin
AU - Amendola, Laura
AU - Andrews, Ashley
AU - Ashley, Euan A.
AU - Azamian, Mahshid S.
AU - Bacino, Carlos A.
AU - Bademci, Guney
AU - Baker, Eva
AU - Balasubramanyam, Ashok
AU - Baldridge, Dustin
AU - Bale, Jim
AU - Bamshad, Michael
AU - Barbouth, Deborah
AU - Bayrak-Toydemir, Pinar
AU - Beck, Anita
AU - Beggs, Alan H.
AU - Behrens, Edward
AU - Bejerano, Gill
AU - Bennet, Jimmy
AU - Berg-Rood, Beverly
AU - Bernstein, Jonathan A.
AU - Berry, Gerard T.
AU - Bican, Anna
AU - Bivona, Stephanie
AU - Blue, Elizabeth
AU - Bohnsack, John
AU - Bonnenmann, Carsten
AU - Bonner, Devon
AU - Botto, Lorenzo
AU - Boyd, Brenna
AU - Briere, Lauren C.
AU - Brokamp, Elly
AU - Brown, Gabrielle
AU - Burke, Elizabeth A.
AU - Dasari, Surendra
AU - Lanpher, Brendan C.
AU - Lanza, Ian R.
AU - Morava, Eva
AU - Oglesbee, Devin
N1 - Publisher Copyright:
© 2021 National Society of Genetic Counselors.
PY - 2022/4
Y1 - 2022/4
N2 - Genetic counselors (GCs) are increasingly filling important positions on research study teams, but there is limited literature describing the roles of GCs in these settings. GCs on the Undiagnosed Diseases Network (UDN) study team serve in a variety of roles across the research network and provide an opportunity to better understand genetic counselor roles in research. To quantitatively characterize the tasks regularly performed and professional fulfillment derived from these tasks, two surveys were administered to UDN GCs in a stepwise fashion. Responses from the first, free-response survey elicited the scope of tasks which informed development of a second structured, multiple-select survey. In survey 2, respondents were asked to select which roles they performed. Across 19 respondents, roles in survey 2 received a total of 947 selections averaging approximately 10 selections per role. When asked to indicate what roles they performed, respondent selected a mean of 50 roles (range 22–70). Survey 2 data were analyzed via thematic coding of responses and hierarchical cluster analysis to identify patterns in responses. From the thematic analysis, 20 non-overlapping codes emerged in seven categories: clinical interaction and care, communication, curation, leadership, participant management, research, and team management. Three themes emerged from the categories that represented the roles of GCs in the UDN: clinical care, collaboration, and curation. Cluster analyses showed that responses were more similar among individuals at the same institution than between institutions. This study highlights the ways GCs apply their unique skill set in the context of a clinical translational research network. Additionally, findings from this study reinforce the wide applicability of core skills that are part of genetic counseling training. Clinical literacy, genomics expertise and analysis, interpersonal, psychosocial and counseling skills, education, professional practice skills, and an understanding of research processes make genetic counselors well suited for such roles and poised to positively impact research experiences and outcomes for participants.
AB - Genetic counselors (GCs) are increasingly filling important positions on research study teams, but there is limited literature describing the roles of GCs in these settings. GCs on the Undiagnosed Diseases Network (UDN) study team serve in a variety of roles across the research network and provide an opportunity to better understand genetic counselor roles in research. To quantitatively characterize the tasks regularly performed and professional fulfillment derived from these tasks, two surveys were administered to UDN GCs in a stepwise fashion. Responses from the first, free-response survey elicited the scope of tasks which informed development of a second structured, multiple-select survey. In survey 2, respondents were asked to select which roles they performed. Across 19 respondents, roles in survey 2 received a total of 947 selections averaging approximately 10 selections per role. When asked to indicate what roles they performed, respondent selected a mean of 50 roles (range 22–70). Survey 2 data were analyzed via thematic coding of responses and hierarchical cluster analysis to identify patterns in responses. From the thematic analysis, 20 non-overlapping codes emerged in seven categories: clinical interaction and care, communication, curation, leadership, participant management, research, and team management. Three themes emerged from the categories that represented the roles of GCs in the UDN: clinical care, collaboration, and curation. Cluster analyses showed that responses were more similar among individuals at the same institution than between institutions. This study highlights the ways GCs apply their unique skill set in the context of a clinical translational research network. Additionally, findings from this study reinforce the wide applicability of core skills that are part of genetic counseling training. Clinical literacy, genomics expertise and analysis, interpersonal, psychosocial and counseling skills, education, professional practice skills, and an understanding of research processes make genetic counselors well suited for such roles and poised to positively impact research experiences and outcomes for participants.
KW - Genetic counseling
KW - expanded roles
KW - genetic counselors
KW - professional development
KW - research
UR - http://www.scopus.com/inward/record.url?scp=85112496309&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85112496309&partnerID=8YFLogxK
U2 - 10.1002/jgc4.1493
DO - 10.1002/jgc4.1493
M3 - Article
C2 - 34374469
AN - SCOPUS:85112496309
SN - 1059-7700
VL - 31
SP - 326
EP - 337
JO - Journal of Genetic Counseling
JF - Journal of Genetic Counseling
IS - 2
ER -