Clinical trial NCT03130569: Skin Health Online for Melanoma: Better Risk Assessment
Official title: Personalized Genomic Testing for Skin Cancer - Maximizing Utility and Reach
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Melanoma (Skin)
Keywords: Risk Assessment
Personal Genomic Testing
Skin Cancer
Primary Care
Lead sponsor: University of New Mexico
Sponsor class: OTHER
Collaborators: name: Memorial Sloan Kettering Cancer Center
First posted: 2017-04-26
Enrollment: 600
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: RANDOMIZED
Intervention model: PARALLEL
Primary purpose: OTHER

Brief summary: This study will have two phases, with an added usability test after Phase I and before Phase 2. Phase 1: Cognitive Interviews of materials in Spanish. Phase 2: Personalized Genomic Testing for Skin Cancer (PGT-SC). The overarching goal of this study is to learn more about how to maximize the availability, comprehension and appropriate uptake of personalized genomics among different populations in New Mexico. Primary Care patients will be recruited in their primary health clinic to complete surveys about their understanding and beliefs of skin cancer and behaviors that might help prevent skin cancer. 6 out of every 7 patients will then be asked to go to a website to learn more about skin cancer risk. Once participants have completed the education modules on this site, participants will be given the option to request and complete a skin cancer genetic testing kit. All participants will be contacted again after three months to complete a follow-up set of surveys about skin cancer.

Detailed description: This study will have two phases, with an added usability test after Phase I and before Phase 2. Phase 1: Cognitive Interviews in Spanish. Phase 2: Personalized Genomic Testing for Skin Cancer (PGT-SC).

The overarching goal of this study is to learn more about how to maximize the availability, comprehension and appropriate uptake of personalized genomics among different populations in New Mexico. The study has been funded as an R01 by NCI for three years.

Aim I: To examine the personal utility (that is, how does personal genomic testing help the individual) of Personal Genomic Testing for Skin Cancer (PGT-SC) in terms of short-term (three months after testing) sun protection, skin screening (i.e., behaviors), communication, melanoma threat and control beliefs (i.e., putative mediators of behavior change). Guided by Protection Motivation Theory, the investigators hypothesize that behaviors and putative mediators will be higher in those who test, compared to those who decline testing or wait-list controls.

Aim Ia. An important challenge of personal genomics involves the potential for those who receive "negative" genetic feedback to increase risky behaviors. To examine this potential unintended consequence of testing, the investigators will conduct a subgroup analysis among those who receive average risk PGT-SC findings, examining sun protection at three months as the outcome. Predictors will include baseline skin cancer threat and control beliefs, skin cancer risk factors, and demographics. These findings will be used in future studies to develop messages for groups that receive average risk feedback, which accounts for large segments of those tested for moderate risk susceptibility factors across many diseases.

Aim II: To examine differential reach of PGT-SC across Hispanics and Non-Hispanics, and potential explanations for any differential reach. Reach is defined as the extent to which genomic testing is spread throughout the population. Reach will be measured in individuals as the consideration of the pros and cons of testing and registration of test decision. Additional assessments of reach include baseline survey completion and decision to pursue PGT-SC testing. The investigators hypothesize that those who are self-identified Hispanic will show reduced reach, but that differences in health literacy, health system distrust, and Hispanic sociocultural factors including cancer fatalism, family health orientation, and skin cancer misperceptions will explain differences in reach between Hispanics and Non-Hispanics, and provide guidance for future PGT-SC modifications for Hispanics.

Aim III: Among those who undergo testing, to examine (two weeks after PGT-SC test result receipt) test comprehension, recall, satisfaction, and cancer-related distress, and whether these outcomes differ by ethnicity (Hispanic versus Non-Hispanic) or health literacy, distrust, sociocultural, or demographic factors. The investigators hypothesize, based on prior work delivering this intervention in primary care, the results will reflect high test comprehension, accurate feedback interpretation, and low test distress in those who get tested.

Background. Personalized genomics currently has extremely limited reach. First, most gene discovery has not engaged diverse research cohorts. Second, the few translational research efforts that address "real world" genomic challenges and opportunities have engaged those with higher socioeconomic status and health literacy. Third, ethnic and racial minorities are less likely to participate in basic genomics research, and are also less likely to utilize available genomic technologies, even when they are offered. Ideally, the investigators should all have fair access to the knowledge gained from sequencing the human genome, but if these trends continue, the investigators will know little about how to maximize availability, comprehension, and appropriate uptake of personalized genomics across large subpopulations that stand to benefit from it.

To begin to address this, The Multiplex Study led by the National Human Genome Research Institute (NHGRI) used population-based recruitment strategies in Detroit, Michigan to evaluate an Internet-provided offer of genomic testing for common diseases, including melanoma, the most serious form of skin cancer. Study findings indicate that this approach is feasible - resulting in high test comprehension, accurate feedback interpretation, and low test distress in those who sought testing. Yet this study did not include Hispanics nor assess behavioral outcomes.

Personalized genomic testing for skin cancer (PGT-SC) is an ideal context to extend Multiplex to a new population, and new outcomes. Skin cancers are preventable, curable, very common in the general population, and disproportionately increasing in Hispanics. The NHGRI Multiplex Study offered testing for melanoma risk via the melanocortin 1 receptor gene (MC1R) because MC1R is common in the general population (50% \>1 high risk variant), interacts with sun exposure, and confers risk (2-3 fold; consistent with most moderate risk variants), even in those with darker skin types. MC1R feedback is a promising vehicle to raise risk awareness and protective behavior in the general population, including Hispanics who are largely unaware of their melanoma risks. The investigators will conduct a randomized controlled trial examining internet presentation of the risks and benefits of PGT-SC (shown to be feasible in Multiplex) versus wait-list controls who are not offered testing, comparing personal utility and reach in a general population, English or Spanish-speaking cohort in Albuquerque, New Mexico, where there is year-round sun exposure.

Phase 1 data is not reported in the Results section because the goal of Phase 1 was to finalize the Spanish translation of the intervention/data collection instruments.

Eligibility criteria: Inclusion Criteria:

* Registered at a University of New Mexico primary care clinic for ≥6 months
* Assigned to a primary care provider
* Fluent in either English or Spanish

Exclusion Criteria:

* Unable to consent
* \<18 years old
* Prisoner

Primary outcomes:
measure: Reach of Personalized Genomic Testing for Melanoma.
timeFrame: Three months from enrollment for each participant. Enrollment occurs on a rolling basis, to be completed August 2017.
Secondary outcomes:
Other outcomes:
Locations:
city: Albuquerque
country: United States
facility: University of New Mexico
state: New Mexico
Study officials:
affiliation: University of New Mexico
name: Marianne Berwick, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Memorial Sloan Kettering Cancer Center
name: Jennifer Hay, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Bloss CS, Ornowski L, Silver E, Cargill M, Vanier V, Schork NJ, Topol EJ. Consumer perceptions of direct-to-consumer personalized genomic risk assessments. Genet Med. 2010 Sep;12(9):556-66. doi: 10.1097/GIM.0b013e3181eb51c6.
citation: Demenais F, Mohamdi H, Chaudru V, Goldstein AM, Newton Bishop JA, Bishop DT, Kanetsky PA, Hayward NK, Gillanders E, Elder DE, Avril MF, Azizi E, van Belle P, Bergman W, Bianchi-Scarra G, Bressac-de Paillerets B, Calista D, Carrera C, Hansson J, Harland M, Hogg D, Hoiom V, Holland EA, Ingvar C, Landi MT, Lang JM, Mackie RM, Mann GJ, Ming ME, Njauw CJ, Olsson H, Palmer J, Pastorino L, Puig S, Randerson-Moor J, Stark M, Tsao H, Tucker MA, van der Velden P, Yang XR, Gruis N; Melanoma Genetics Consortium. Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study. J Natl Cancer Inst. 2010 Oct 20;102(20):1568-83. doi: 10.1093/jnci/djq363. Epub 2010 Sep 28.
citation: Friedman LC, Bruce S, Weinberg AD, Cooper HP, Yen AH, Hill M. Early detection of skin cancer: racial/ethnic differences in behaviors and attitudes. J Cancer Educ. 1994 Summer;9(2):105-10. doi: 10.1080/08858199409528281.
citation: Green ED, Guyer MS; National Human Genome Research Institute. Charting a course for genomic medicine from base pairs to bedside. Nature. 2011 Feb 10;470(7333):204-13. doi: 10.1038/nature09764.
citation: Hay J, Ostroff J, Martin A, Serle N, Soma S, Mujumdar U, Berwick M. Skin cancer risk discussions in melanoma-affected families. J Cancer Educ. 2005 Winter;20(4):240-6. doi: 10.1207/s15430154jce2004_13.
citation: Hay J, Shuk E, Brady MS, Berwick M, Ostroff J, Halpern A. Family communication after melanoma diagnosis. Arch Dermatol. 2008 Apr;144(4):553-4. doi: 10.1001/archderm.144.4.553. No abstract available.
citation: Hay J, Shuk E, Zapolska J, et al. Family communication patterns after melanoma diagnosis. Journal of Family Communication. 2009;9(4):209-232.
citation: Hay J, Coups EJ, Ford J, DiBonaventura M. Exposure to mass media health information, skin cancer beliefs, and sun protection behaviors in a United States probability sample. J Am Acad Dermatol. 2009 Nov;61(5):783-92. doi: 10.1016/j.jaad.2009.04.023. Epub 2009 Jul 10.
citation: Hay JL, Baguer C, Li Y, Orlow I, Berwick M. Interpretation of melanoma risk feedback in first-degree relatives of melanoma patients. J Cancer Epidemiol. 2012;2012:374842. doi: 10.1155/2012/374842. Epub 2012 Jul 25.
citation: Hay J, Kaphingst KA, Baser R, Li Y, Hensley-Alford S, McBride CM. Skin cancer concerns and genetic risk information-seeking in primary care. Public Health Genomics. 2012;15(2):57-72. doi: 10.1159/000330403. Epub 2011 Sep 13.
citation: Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, Manolio TA. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9362-7. doi: 10.1073/pnas.0903103106. Epub 2009 May 27.
citation: Hu S, Parmet Y, Allen G, Parker DF, Ma F, Rouhani P, Kirsner RS. Disparity in melanoma: a trend analysis of melanoma incidence and stage at diagnosis among whites, Hispanics, and blacks in Florida. Arch Dermatol. 2009 Dec;145(12):1369-74. doi: 10.1001/archdermatol.2009.302.
citation: James RD, Yu JH, Henrikson NB, Bowen DJ, Fullerton SM; Health Disparities Working Group. Strategies and stakeholders: minority recruitment in cancer genetics research. Community Genet. 2008;11(4):241-9. doi: 10.1159/000116878. Epub 2008 Apr 14.
citation: Kaphingst KA, McBride CM, Wade C, Alford SH, Reid R, Larson E, Baxevanis AD, Brody LC. Patients' understanding of and responses to multiplex genetic susceptibility test results. Genet Med. 2012 Jul;14(7):681-7. doi: 10.1038/gim.2012.22.
citation: Khoury MJ, Clauser SB, Freedman AN, Gillanders EM, Glasgow RE, Klein WM, Schully SD. Population sciences, translational research, and the opportunities and challenges for genomics to reduce the burden of cancer in the 21st century. Cancer Epidemiol Biomarkers Prev. 2011 Oct;20(10):2105-14. doi: 10.1158/1055-9965.EPI-11-0481. Epub 2011 Jul 27.
citation: Lazovich D, Choi K, Vogel RI. Time to get serious about skin cancer prevention. Cancer Epidemiol Biomarkers Prev. 2012 Nov;21(11):1893-901. doi: 10.1158/1055-9965.EPI-12-0327. Epub 2012 Sep 7.
citation: Mujumdar UJ, Hay JL, Monroe-Hinds YC, Hummer AJ, Begg CB, Wilcox HB, Oliveria SA, Berwick M. Sun protection and skin self-examination in melanoma survivors. Psychooncology. 2009 Oct;18(10):1106-15. doi: 10.1002/pon.1510.
citation: Pagan JA, Su D, Li L, Armstrong K, Asch DA. Racial and ethnic disparities in awareness of genetic testing for cancer risk. Am J Prev Med. 2009 Dec;37(6):524-30. doi: 10.1016/j.amepre.2009.07.021.
citation: Pipitone M, Robinson JK, Camara C, Chittineni B, Fisher SG. Skin cancer awareness in suburban employees: a Hispanic perspective. J Am Acad Dermatol. 2002 Jul;47(1):118-23. doi: 10.1067/mjd.2002.120450.
citation: Raimondi S, Sera F, Gandini S, Iodice S, Caini S, Maisonneuve P, Fargnoli MC. MC1R variants, melanoma and red hair color phenotype: a meta-analysis. Int J Cancer. 2008 Jun 15;122(12):2753-60. doi: 10.1002/ijc.23396.
citation: Robinson JK, Joshi KM, Ortiz S, Kundu RV. Melanoma knowledge, perception, and awareness in ethnic minorities in Chicago: recommendations regarding education. Psychooncology. 2011 Mar;20(3):313-20. doi: 10.1002/pon.1736.
citation: Rouhani P, Pinheiro PS, Sherman R, Arheart K, Fleming LE, Mackinnon J, Kirsner RS. Increasing rates of melanoma among nonwhites in Florida compared with the United States. Arch Dermatol. 2010 Jul;146(7):741-6. doi: 10.1001/archdermatol.2010.133.
citation: Suther S, Kiros GE. Barriers to the use of genetic testing: a study of racial and ethnic disparities. Genet Med. 2009 Sep;11(9):655-62. doi: 10.1097/GIM.0b013e3181ab22aa.
citation: Torres S, Ramos M, Leverence R, Bowen D, Berwick M, Hay J. Skin Cancer Risk Reduction Behaviors, Cancer Communication, and Skin Cancer Beliefs in Hispanics in a Southwestern Primary Care Practice. Californian Journal of Health Promotion. See Appendix III for the In Press Manuscript.
citation: Udayakumar D, Tsao H. Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies. Genome Med. 2009 Oct 27;1(10):95. doi: 10.1186/gm95.
citation: Wade CH, McBride CM, Kardia SL, Brody LC. Considerations for designing a prototype genetic test for use in translational research. Public Health Genomics. 2010;13(3):155-65. doi: 10.1159/000236061. Epub 2009 Sep 3.
citation: Hay JL, Zielaskowski K, Meyer White K, Kaphingst K, Robers E, Guest D, Sussman A, Talamantes Y, Schwartz M, Rodriguez VM, Li Y, Schofield E, Bigney J, Hunley K, Buller D, Berwick M. Interest and Uptake of MC1R Testing for Melanoma Risk in a Diverse Primary Care Population: A Randomized Clinical Trial. JAMA Dermatol. 2018 Jun 1;154(6):684-693. doi: 10.1001/jamadermatol.2018.0592.