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Winter 2023

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Lessons Learned While Creating and Refining an eHealth Pretest Genetic Education Platform

Jessica N. Rivera Rivera, PhD, MPH

A year ago, I was awarded the Bridging the Gap Research Award. It was the first time that I received external funds to develop my own line of research. With this funding, I developed an alternative approach to address disparities in use of genetic services among early-onset colorectal cancer patients (EOCRC; diagnosed prior age 50) by expediting the genetic testing process to facilitate guideline-concordant genetic care.

During my postdoctoral fellowship, I learned about the alarming increasing colorectal cancer incidence and mortality among men and women under age 50.1, 2 I was shocked to learn that EOCRC patients have a nearly 50% greater risk of second primary cancers compared to the general population.3 Identification of pathogenic germline variants among colorectal cancer patients can support risk management for prevention and early detection of new primary cancers, and facilitate cascade testing among at-risk relatives, ultimately reducing morbidity and mortality for probands and their family members.4-8 Thus, national guidelines recommend multigene panel testing for all individuals diagnosed with colorectal cancer prior age 50. Yet, only 40-60% of EOCRC patients are estimated to obtain genetic services.9 Barriers include lack of referral to genetic services, perceived cost of genetic services, and shortage of genetic providers.9-12 With the support of my postdoctoral mentors, genetic counselors, and technology partners we developed the eHealth pretest genetic education prototype for English- and Spanish-speaking adults with early-onset colorectal cancer, called Nest-CRC. Following the Learner Verification approach,13 I interviewed a total of 13 providers and 39 EOCRC patients across two iterations of evaluation, revisions, and refinement of Nest-CRC. Participants reported high levels of attraction, comprehension, confidence, cultural-linguistic acceptability, and usability of Nest-CRC, suggesting that Nest-CRC is a promising strategy to address the urgent need to facilitate genetic services for high-risk cancer patients.

While I successfully completed this project, I faced a few unexpected challenges that I overcame with the wisdom of my mentors, perseverance, and several follow-up emails.  As an early investigator, these are the most important lessons that I learned during this project.

  1. It takes time to start a research project. How many times I have heard “plan to have enough time to start your project”? and I thought I did. I estimated that I needed about 2 months to get IRB approval and start the project.  What I did not take into consideration is that the Comprehensive Cancer Centers also have a Scientific Review Committee that needs to review and approve the research protocols before you can submit to the IRB, and sometimes these committees and boards only meet once a month. Also, who knew (definitely not me) that I needed IRB approval to get the Master Service Agreement between my institution and my technology partners? Even with an amazing team and supportive institution, it took me 5 months to begin the project.
  2. Involve providers in creating a patient-facing education. I am so glad that my mentors connected me with the genetic counselors at my institution who were supportive of an alternative approach to facilitate pre-test genetic education by integrating genetic services within oncology clinics. I learned that to create a meaningful strategy that could be easily implemented in clinics, is important to create an intervention that can co-exist and support key providers. It’s imperative to understand the targeted clinics, services, and workflows before developing any intervention.
  3. It's doable to simultaneously develop an intervention in different languages. As a Latina where Spanish is my primary language, it was especially important to me to develop interventions that are available in different languages. We often exclude marginalized groups because of language barriers, even when these individuals might benefit the most from the intervention being developed. Being bilingual definitively helped in simultaneously creating the English and Spanish versions, but also having experts who could review the English and Spanish content prior to finalizing each version was imperative. Be aware that noble intentions to have the intervention available in different languages will not lead to automatically recruiting non-English speakers. Rather, you must put thought, effort, and several resources in place to reach out and recruit these underserved groups. 
  4. The PI makes the final decisions. I interviewed over 50 participants, and while there was some overlap in their recommendations, some recommendations were diverse or contradictory. I haven’t found a simple formula that indicates what recommendations you should address and which ones you shouldn’t. While it’s important to consult your research team, experts in the topic area, and technology partners prior to making decisions, at the end of the day the PI considers all the feedback and make the final decisions. This was new to me.
  5. Small funds can be the foundation of impactful research projects. The Bridging the Gap Award gave me the opportunity to start my new line of research. I proved to myself that I can successfully complete this line of research. The development of the Nest-CRC tool and the collected pilot data have also strengthened my competitive research grant proposals. At the institution where I completed my postdoctoral training, my mentors provided supplementary funds to finish out the project. At my new institution, I received internal funds to assess the gaps in genetic services among EOCRC patients and to continue evaluating the acceptability and usability of Nest-CRC. I also submitted an NCI proposal to finalize and pilot-test this pre-test genetic education in the real world. Furthermore, Nest-CRC was recently adapted for pancreatic patients and implemented at a GI clinic.

References

  1. Murphy CC, Singal AG, Baron JA, Sandler RS. Decrease in Incidence of Young-Onset Colorectal Cancer Before Recent Increase. Gastroenterology. 2018;155(6):1716-1719.e4. doi:10.1053/j.gastro.2018.07.045
  2. Siegel RL, Fedewa SA, Anderson WF, et al. Colorectal cancer incidence patterns in the United States, 1974–2013. JNCI: Journal of the National Cancer Institute. 2017;109(8)
  3. Tiritilli A, Ko C. Patients with Early-Onset Colorectal Cancer Have an Increased Risk of Second Primary Malignancy. Digestive Diseases and Sciences. 2022/04/01 2022;67(4):1328-1336. doi:10.1007/s10620-021-06971-x
  4. Uson Jr PL, Riegert-Johnson D, Boardman L, et al. Germline cancer susceptibility gene testing in unselected patients with colorectal adenocarcinoma: a multicenter prospective study. Clinical Gastroenterology and Hepatology. 2022;20(3):e508-e528.
  5. Mandelker D, Zhang L, Kemel Y, et al. Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. JAMA. Sep 5 2017;318(9):825-835. doi:10.1001/jama.2017.11137
  6. Gupta S, Provenzale D, Llor X, et al. NCCN guidelines insights: Genetic/familial high-risk assessment: Colorectal, version 2.2019: Featured updates to the NCCN guidelines. Journal of the National Comprehensive Cancer Network. 2019;17(9):1032-1041.
  7. Boardman LA, Vilar E, You YN, Samadder J. AGA Clinical Practice Update on Young Adult–Onset Colorectal Cancer Diagnosis and Management: Expert Review. Clinical Gastroenterology and Hepatology. 2020;18(11):2415-2424.
  8. Valle L, Vilar E, Tavtigian SV, Stoffel EM. Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine. The Journal of pathology. 2019;247(5):574-588.
  9. Dharwadkar P, Greenan G, Stoffel EM, et al. Racial and ethnic disparities in germline genetic testing of patients with young-onset colorectal cancer. Clinical Gastroenterology and Hepatology. 2020;
  10. Noll A, Parekh PJ, Zhou M, et al. Barriers to Lynch syndrome testing and preoperative result availability in early-onset colorectal cancer: a national physician survey study. Clinical and translational gastroenterology. 2018;9(9)
  11. Hoskovec JM, Bennett RL, Carey ME, et al. Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study. J Genet Couns. Feb 2018;27(1):16-20. doi:10.1007/s10897-017-0158-8
  12. Jenkins BD, Fischer CG, Polito CA, et al. The 2019 US medical genetics workforce: a focus on clinical genetics. Genetics in Medicine. 2021/08/01 2021;23(8):1458-1464. doi:10.1038/s41436-021-01162-5
  13. Chavarria EA, Christy SM, Simmons VN, Vadaparampil ST, Gwede CK, Meade CD. Learner verification: A methodology to create suitable education materials. HLRP: Health Literacy Research and Practice. 2021;5(1):e49-e59.