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Randomized Controlled Trial
. 2024 May;166(5):872-885.e2.
doi: 10.1053/j.gastro.2024.01.042. Epub 2024 Feb 5.

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

Nicolette J Rodriguez  1 , C Sloane Furniss  2 , Matthew B Yurgelun  1 , Chinedu Ukaegbu  2 , Pamela E Constantinou  3 , Ileana Fortes  4 , Alyson Caruso  4 , Alison N Schwartz  4 , Jill E Stopfer  4 , Meghan Underhill-Blazey  5 , Barbara Kenner  6 , Scott H Nelson  7 , Sydney Okumura  8 , Alicia Y Zhou  8 , Tara B Coffin  9 , Hajime Uno  2 , Miki Horiguchi  2 , Allyson J Ocean  10 , Florencia McAllister  3 , Andrew M Lowy  11 , Alison P Klein  12 , Lisa Madlensky  11 , Gloria M Petersen  13 , Judy E Garber  1 , Scott M Lippman  11 , Michael G Goggins  12 , Anirban Maitra  3 , Sapna Syngal  14
Affiliations
Randomized Controlled Trial

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

Nicolette J Rodriguez et al. Gastroenterology. 2024 May.

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: Cascade Genetic Testing; Healthcare Delivery.

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Figures

Figure 1.
Figure 1.
Consort Diagram of the GENERATE Study
Figure 2.
Figure 2.
Heat Map of Randomized Study Participants
Figure 2.
Figure 2.
Heat Map of Randomized Study Participants
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References

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