A Randomized Trial of Two Remote Health Care Delivery Models on the Uptake of Genetic Testing and Impact on Patient-Reported Psychological Outcomes in Families With Pancreatic Cancer: The Genetic Education, Risk Assessment, and Testing (GENERATE) Study

Authors

Nicolette J Rodriguez
C Sloane Furniss
Matthew B Yurgelun
Chinedu Ukaegbu
Pamela E Constantinou
Ileana Fortes
Alyson Caruso
Alison N Schwartz
Jill E Stopfer
Meghan Underhill-Blazey
Barbara Kenner
Scott H Nelson
Sydney Okumura
Alicia Y Zhou
Tara B Coffin
Hajime Uno
Miki Horiguchi
Allyson J Ocean
Florencia McAllister
Andrew M Lowy
Alison P Klein
Lisa Madlensky
Gloria M Petersen
Judy E Garber
Scott M Lippman
Michael G Goggins
Anirban Maitra
Sapna Syngal

Publication Date

5-1-2024

Journal

Gastroenterology

Abstract

Background & aims: Genetic testing uptake for cancer susceptibility in family members of patients with cancer is suboptimal. Among relatives of patients with pancreatic ductal adenocarcinoma (PDAC), The GENetic Education, Risk Assessment, and TEsting (GENERATE) study evaluated 2 online genetic education/testing delivery models and their impact on patient-reported psychological outcomes.

Methods: Eligible participants had ≥1 first-degree relative with PDAC, or ≥1 first-/second-degree relative with PDAC with a known pathogenic germline variant in 1 of 13 PDAC predisposition genes. Participants were randomized by family, between May 8, 2019, and June 1, 2021. Arm 1 participants underwent a remote interactive telemedicine session and online genetic education. Arm 2 participants were offered online genetic education only. All participants were offered germline testing. The primary outcome was genetic testing uptake, compared by permutation tests and mixed-effects logistic regression models. We hypothesized that Arm 1 participants would have a higher genetic testing uptake than Arm 2. Validated surveys were administered to assess patient-reported anxiety, depression, and cancer worry at baseline and 3 months postintervention.

Results: A total of 424 families were randomized, including 601 participants (n = 296 Arm 1; n = 305 Arm 2), 90% of whom completed genetic testing (Arm 1 [87%]; Arm 2 [93%], P = .014). Arm 1 participants were significantly less likely to complete genetic testing compared with Arm 2 participants (adjusted ratio [Arm1/Arm2] 0.90, 95% confidence interval 0.78-0.98). Among participants who completed patient-reported psychological outcomes questionnaires (Arm 1 [n = 194]; Arm 2 [n = 206]), the intervention did not affect mean anxiety, depression, or cancer worry scores.

Conclusions: Remote genetic education and testing can be a successful and complementary option for delivering genetics care. (Clinicaltrials.gov, number NCT03762590).

Keywords

Humans, Pancreatic Neoplasms, Male, Female, Middle Aged, Genetic Testing, Carcinoma, Pancreatic Ductal, Genetic Predisposition to Disease, Risk Assessment, Patient Reported Outcome Measures, Telemedicine, Aged, Anxiety, Adult, Depression, Genetic Counseling, Germ-Line Mutation, Family, Cascade Genetic Testing, Healthcare Delivery.

DOI

10.1053/j.gastro.2024.01.042

PMID

38320723

PMCID

PMC11034726

PubMedCentral® Posted Date

5-1-2025

PubMedCentral® Full Text Version

Author MSS

Published Open-Access

yes