Improving Informed Consent and Communication And Assessing Impact On The Health System
Genomic sequencing is being used in limited clinical settings, such as in oncology to direct treatment and in pediatrics to make diagnoses in children with developmental and behavioral concerns. One of the challenges of integrating genomic sequencing into the clinic is whether such information will be valued by patients and providers, especially in communities with socioeconomic and ethnic diversity.
In 2011, the National Human Genome Research Institute (NHGRI) established the Clinical Sequencing Exploratory Research (CSER) consortium, which included nine projects to develop evidence to guide researchers, clinicians and policymakers in integrating genomic sequencing into clinical practice responsibly.
Building on the success of the first CSER consortium, NHGRI funded six new projects in 2017 to identify best practices for offering genomic sequencing to diverse and medically underserved patients. As part of the second CSER consortium, bioethics faculty Stephanie Kraft is developing a contextualized consent approach to offer genomic sequencing to adult primary care patients with a family history of breast or colon cancer.
Her work is part of the Cancer Health Assessment Reaching Many (CHARM) study, which is a collaboration involving Seattle Children’s, Kaiser Permanente Northwest and Denver Health. The CHARM study is led by pediatric pulmonologist and bioethics faculty Benjamin Wilfond and genetic epidemiologist Katrina Goddard at Kaiser. Kraft and Wilfond are joined by bioethics staff Katie Porter and Devan Duenas.
The CHARM study aims to develop best practices for offering genomic sequencing for cancer risk in the primary care setting. One of the study’s primary outcomes will be a comparison between standard genetic counseling and a modified approach that minimizes the use of genetics terms and focuses on cancer screening recommendations (i.e., mammography and colonoscopy).
A major focus of the study is improving communication with low-literacy populations, and all study materials will incorporate feedback from patient advisors. To this end, Kraft and the consent team are developing a multimedia, contextualized consent approach that will present information about testing and research separately and will use narrated visual aids to make the information accessible.
Kraft, Wilfond and Porter previously collaborated with Kaiser in the first CSER consortium on the NextGen study, which assessed the impact of offering genomic sequencing to Kaiser patients who requested genetic testing for reproductive planning. These otherwise healthy individuals joined a randomized trial of preconception-expanded carrier screening using genomic sequencing for more than 700 conditions compared with usual care (single gene testing).
Between 2014–2016, 286 women were recruited, including 131 in the sequencing group (along with 71 partners) and 155 in the usual care group. This multidisciplinary study assessed laboratory, genetic counseling and patient experiences, as well as healthcare use.
Patients valued having a choice of five categories of genetic conditions to receive as a sign of respect, despite the fact that 95% of patients chose to receive results for all the categories they were offered. Overall, 78% of participants in the sequencing group received at least one carrier result, and in 12 couples both partners were carriers for the same condition. There were no differences in the use of subsequent health services between the two groups.
“The CSER projects are unique in that each involves diverse research teams including experts in clinical genetics, genetic counseling, healthcare economics, anthropology, biostatistics and bioethics. The CHARM study is an important opportunity to build on the findings of the first CSER consortium and to integrate the voices of diverse patient populations into the clinical implementation of genomics in primary care.”
To provide evidence for policymakers to implement genomic health services so it is more responsive to patient needs.
- Laura Amendola, Gail Jarvik, Michael Dorschner, University of Washington School of Medicine
- Katy Anderson, Denver Health
- Katrina Goddard, Carmit McMullen, Allen Rope, Kaiser Permanente Northwest
- Galen Joseph, University of California, San Francisco
- Sandra Lee, Stanford University School of Medicine
- National Human Genome Research Institute
- Kraft SA, Doerr M. Engaging populations underrepresented in research through novel approaches to consent. American Journal of Medical Genetics Part C. 2018;178C:75-80.
- Kraft SA, Schneider JL, Leo MC, Kauffman TL, Davis JV, Porter KM, McMullen CK, Wilfond BS, Goddard KAB. Patient actions and reactions after receiving negative results from expanded carrier screening. Clinical Genetics 2 Jan 2018.
- Kraft SA, McMullen CK, Porter KM, Kauffman TL, Davis JV, Schneider JL, Goddard KAB, Wilfond BS. Preparing for the future: Patient perspectives on the use of categories for decision making about genomic carrier screening results. American Journal of Medical Genetics Part A. 2017;19:803-808.
- Korngiebel DM, McMullen CK, Amendola LM, Berg JS, Davis JV, Gilmore MJ, Harding CO, Himes P, Jarvik GP, Kauffman TL, Kennedy KA, Simpson DK, Leo MC, Lynch FL, Quigley DI, Reiss JA, Richards CS, Rope AF, Schneider JL, Goddard KA, Wilfond BS. Generating a taxonomy for genetic conditions relevant to reproductive planning. American Journal of Medical Genetics Part A. 2016;170(3):565-573.
- Wilfond BS, Goddard KA. It's complicated: Criteria for policy decisions for the clinical integration of genome-scale sequencing for reproductive decision making. Molecular Genetics & Genomic Medicine. 2015;3(4):239-242.
- Kauffman TL, Wilfond BS, Jarvik GP, Leo MC, Lynch FL, Reiss JA, Richards CS, McMullen C, Nickerson D, Dorschner MO, Goddard KA. Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing. Contemporary Clinical Trials. 2017;53:100-105.
Read more about CSER.