Making a Referral for Genetic Services: Where to Turn and What to Expect

Keyword(s):  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Kimberly A. Kaphingst ◽  
Wendy Kohlmann ◽  
Rachelle Lorenz Chambers ◽  
Melody S. Goodman ◽  
Richard Bradshaw ◽  
...  

Abstract Background Advances in genetics and sequencing technologies are enabling the identification of more individuals with inherited cancer susceptibility who could benefit from tailored screening and prevention recommendations. While cancer family history information is used in primary care settings to identify unaffected patients who could benefit from a cancer genetics evaluation, this information is underutilized. System-level population health management strategies are needed to assist health care systems in identifying patients who may benefit from genetic services. In addition, because of the limited number of trained genetics specialists and increasing patient volume, the development of innovative and sustainable approaches to delivering cancer genetic services is essential. Methods We are conducting a randomized controlled trial, entitled Broadening the Reach, Impact, and Delivery of Genetic Services (BRIDGE), to address these needs. The trial is comparing uptake of genetic counseling, uptake of genetic testing, and patient adherence to management recommendations for automated, patient-directed versus enhanced standard of care cancer genetics services delivery models. An algorithm-based system that utilizes structured cancer family history data available in the electronic health record (EHR) is used to identify unaffected patients who receive primary care at the study sites and meet current guidelines for cancer genetic testing. We are enrolling eligible patients at two healthcare systems (University of Utah Health and New York University Langone Health) through outreach to a randomly selected sample of 2780 eligible patients in the two sites, with 1:1 randomization to the genetic services delivery arms within sites. Study outcomes are assessed through genetics clinic records, EHR, and two follow-up questionnaires at 4 weeks and 12 months after last genetic counseling contactpre-test genetic counseling. Discussion BRIDGE is being conducted in two healthcare systems with different clinical structures and patient populations. Innovative aspects of the trial include a randomized comparison of a chatbot-based genetic services delivery model to standard of care, as well as identification of at-risk individuals through a sustainable EHR-based system. The findings from the BRIDGE trial will advance the state of the science in identification of unaffected patients with inherited cancer susceptibility and delivery of genetic services to those patients. Trial registration BRIDGE is registered as NCT03985852. The trial was registered on June 6, 2019 at clinicaltrials.gov.


2021 ◽  
Author(s):  
Cara N. Cacioppo ◽  
Brian L. Egleston ◽  
Dominique Fetzer ◽  
Colleen Burke Sands ◽  
Syeda A. Raza ◽  
...  

1999 ◽  
Vol 45 (4, Part 2 of 2) ◽  
pp. 78A-78A
Author(s):  
Sara E Kolb ◽  
Maricela C Aguilar ◽  
Maura W Dinenberg ◽  
Celia I Kaye

Author(s):  
Barbara Bernhardt ◽  
Julia B. Rauch

The focus, depth, and use of genetic family histories vary depending on the agency purpose and the client's presenting problem. Failure to obtain genetic family histories can result in inaccurate assessment and incomplete or misdirected services. In the worst-case scenario, failure to obtain such information and to advise clients of available genetic services are potential grounds for malpractice and wrongful-adoption suits. The authors discuss approaches to obtaining and recording genetic family histories and present criteria for referral to genetic services. The authors recommend that agency administrators consider consulting with a genetic professional to determine the appropriate focus of genetic family histories within the agency, design a protocol, and arrange in-service training in use of the protocol.


1988 ◽  
Vol 31 (1) ◽  
pp. 223-230 ◽  
Author(s):  
Frank Greenberg ◽  
John M. Opitz ◽  
James F. Reynolds ◽  
Frank Greenberg
Keyword(s):  

2016 ◽  
Vol 16 (1) ◽  
Author(s):  
Daniela Giardino ◽  
Rita Mingarelli ◽  
Tiziana Lauretti ◽  
Antonio Amoroso ◽  
Lidia Larizza ◽  
...  

Curationis ◽  
1984 ◽  
Vol 7 (2) ◽  
Author(s):  
J. Hof ◽  
H.M. Esterhuysen ◽  
C.J. V.d. Merwe ◽  
C. V.d. Burgh ◽  
L. Lomberg

In the U.S.A. and most European countries the establishment of community based genetic services has emerged only within the last decade. There has been a tendency for the relevant government departments to assume partial or complete responsibility for these services. In South Africa such a community based genetic service under direction of the Genetic Services Division of the Department of Health and Welfare was conceptualised in 1971 and put into operation in 1975.


1993 ◽  
Vol 86 (1) ◽  
pp. 42-45 ◽  
Author(s):  
AMY WOODWARD ◽  
SONIA ALVES ◽  
MERLIN G. BUTLER

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