Barriers to the Adoption and Implementation of Genomic Technologies Among Underserved Patient Populations Catharine Wang, PhD, MSc Department of Community Health Sciences Boston University School of Public Health Annual Meeting of the New England Regional Genetics Network April 6, 2018
Outline for Today: ▪ Public health genomics translation ▪ Public awareness/understanding of genomics ▪ Direct-to-consumer testing landscape ▪ Equity in translation ▪ Background on health and genetic literacy ▪ Overview of family health history (fhx) efforts ▪ Using virtual counselors to overcome literacy-related barriers: VICKY ▪ Preliminary data from ongoing VICKY trial
2016 Providing the right intervention to the right population at the right time Identify population subgroups likely to respond differently to interventions ...ensuring that all people have access to the intended benefits… Shifting focus from treatment to prevention (targeting preventive strategies)
Public Awareness and Understanding of Genetics Scientists Discover The Couch Potato Gene
Public Understanding of Genetics Lanie et al., J Genetic Counseling, 2004
Framing of Genomic Advances: Destiny
Framing of Genomic Advances: Prediction/Precision Outside Magazine Oct 2005
Framing of Genomic Advances: Empowerment Knowledge is power.
Celebrity disclosures and information seeking PDQ Genetics of Breast and Ovarian Cancer: 5-fold increase in page views on May 14 compared to the previous Tuesday. Preventive Mastectomy Fact Sheet : <200 page views/day - jumped to more than 69,000 page views on May 14. Preventative Mastectomy: 69,225 page views BRCA1 & BRCA2: 57,616 page views Genetics Services Search Results: 2,685 page views Genetics of Breast and Ovarian Cancer: 1,608 page views Breast Reconstruction: 1,229 page views Juthe, Zaharchuk & Wang (2014) Genet Med
The Angelina Effect: Milestone in Public Awareness ▪ Single most-blogged-about medical topic in the past 5 years (BMJ Commentary, 2013; 346:f3340) ▪ ~ Doubling of (appropriate) referral rates to clinics (Canada; UK-Evans et al., 2014). Demand for testing also almost doubled (UK). ▪ 40% increase in actual testing (US – AARP study) ▪ Testing rates remained elevated for rest of 2013 ▪ Increase in testing among unaffected twice that of affected women
The Angelina Effect: Milestone in Public Awareness ▪ Single most-blogged-about medical topic in the past 5 years (BMJ Commentary, 2013; 346:f3340) ▪ ~ Doubling of (appropriate) referral rates to clinics (Canada; UK-Evans et al., 2014). Demand for testing also almost doubled (UK). ▪ 40% increase in actual testing (US – AARP study) ▪ Testing rates remained elevated for rest of 2013 ▪ Increase in testing among unaffected twice that of affected women Why did it take Angelina? What now?
Cancer Moonshot to accelerate cancer research Aims to make more therapies available to more patients and improve our ability to prevent cancer and detect it at an early age Blue Ribbon Panel (2016 report) G. Expand use of proven prevention and early detection strategies Several cancer prevention and risk-reduction strategies have proven to be highly effective, including tobacco control, colorectal cancer screening, and HPV vaccination. Boosting prevention research to identify ways to increase uptake of these strategies, especially in medically underserved populations, could greatly reduce incidence and death from lung and other tobacco-related cancers, colorectal cancer, and cervical and other HPV-related cancers.
Direct to Consumer Genetic Testing Premature translation? Potential for harm?
Direct to Consumer Genetic Testing Premature translation? Potential for harm? 23andMe CEO and co-founder Anne Wojcicki: Giving women (and men) the freedom to test for BRCA1/BRCA2 is important… Under the current system, there are specific guidelines for BRCA screening that limit who has access to BRCA testing. (Meaning insurers will generally only cover people for testing if they’re of Ashkenazi Jewish descent or they have a family history of cancers related to the mutations.) So, many people fall through the cracks in the current screening system leaving them unaware of their risk.
DTC Landscape ▪ Commercial DNA testing for ancestry available since 2000 ▪ Three companies control vast majority of ancestry genetic testing market ▪ Family Tree DNA, 23andMe, AncestryDNA ▪ All make raw DNA data files available to consumers ▪ Proliferation of third-party companies to analyze and interpret raw DNA for health purposes
Raw DNA Interpretation Service Used By Consumers 81 Promesthease 59 62 GEDmatch 4 36 Family Tree DNA Consumer 0 G/C 20 Genetic Genie 7 16 LiveWello 22 9 Interpretome 0 6 DNA.Land 0 0 20 40 60 80 % reported 73% of consumers reported using more than 1 (Wang et al., 2018; Allen et al., 2018)
Consumer - Health seeking/results sharing 5% sought advice before using service Sha hared ed r resu esults lts wi with th 83% 30% 62% 8% Medical Family Friend Other provider s 80% PCP 25% Other specialist 14% Genetic counselor 10% (Wang et al., 2018) Nurse practitioner
Counselor - Requested Counseling Specialty Areas 57% 57% % of cases % 21% 21% 18% 18% 11% 11% 11% 11% 7% 7% 4% 4% (Allen et al., 2018)
(Flynn et al., under review)
(Allen et al., 2018)
Undermining the effective translation of genomic technologies?
Equity in Translation Who has access? What is access?
Literacy Skills of U.S. Adults ▪ average reading level in U.S. is 8 th - 9 th grade SOURCE: U.S. Department of Education, Institute of Education Sciences, National Center for Education Statistics, 2003 National Assessment of Adult Literacy
The role of health literacy ▪ Health literacy: degree to which individuals have the capacity to obtain, process, and understand basic health information and services needed to make appropriate health decisions ▪ ~ 1/3 of U.S. adults have limited health literacy ▪ disproportionally affects less educated, elderly, poor, or have limited English proficiency
Facilitating genetic literacy: Family history tools “Genomic tool” for prevention Family health history is simplest genomic test available and remains the gold standard for clinical risk assessment Underutilized in primary care
National Family History Day Launched in Nov 2004 My Family Health Portrait https://familyhistory.hhs.gov/
Electronic tools to collect cancer family history ▪ Cancer in the Family (Rupert et al., 2013) ▪ CRA Health (HughesRiskApps, Ozanne et al., 2009) ▪ Family HealthLink (JamesLink, Sweet et al.,2002; 2014) ▪ Family Healthware (Yoon et al.,2009) ▪ GREAT (Acheson et al., 2006) ▪ GRACE (Braithwaite et al., 2005) ▪ Health Heritage (Cohn et al., 2010) ▪ ItRunsInMyFamily (Welch et al., 2015) ▪ Me Tree (Orlando et al., 2013) ▪ My Family Health Portrait (Guttmacher et al., 2004) ▪ MyLegacy (MyFamily, Doerr et al., 2014)
Family history tools to increase genetic literacy • If you build it, will they come? • If they come, can they use the tool the way you expect them to?
Literacy Assessment of Family History Tools Wang et al (2011) Public Health Genomics
Validity of family history assessment Sensitivity results (1 st /2 nd degree relatives) MFHP NHGRI validation MFHP BU pilot validation (Facio et al., 2010; GIM) (Wang et al., 2015; GIM) ▪ ▪ N=35, 60% black, 51% N=150, 95% white, 67% >college grad, 57% >100K <HS, 51% <25K ▪ Heart Disease: 78% ▪ Stroke: 87% ▪ Diabetes: 82% ▪ Breast Cancer: 84%
Validity of family history assessment Sensitivity results (1 st /2 nd degree relatives) MFHP NHGRI validation MFHP BU pilot validation (Facio et al., 2010; GIM) (Wang et al., 2015; GIM) ▪ ▪ N=35, 60% black, 51% N=150, 95% white, 67% >college grad, 57% >100K <HS, 51% <25K ▪ Heart Disease: 78% ▪ Heart Disease: 51% ▪ Stroke: 87% ▪ Stroke: 50% ▪ Diabetes: 82% ▪ Diabetes: 22% ▪ Breast Cancer: 84% ▪ Breast Cancer: 33%
Virtual Counselors ▪ Computer-animated characters that simulate face-to- face conversation between a patient and a health provider ▪ Requires minimal language / computer skills ▪ Use of nonverbal conversational behaviors ▪ Flexible and responsive, tailored to individual ▪ Prototype developed to collect family health history information from patients VI rtual C ounselor for K nowing Y our Family History ( VICKY )
VICKY pilot study Wang et al (2015) Genet in Med
Sensitivity of Identified Health Conditions VICKY N=70 (1st/2nd degree relatives) MFHP 60 p=.008 p=.001 p=.004 55 54 51 Sensitivity % (tool/gc) 50 49 50 47 42 40 33 33 31 30 22 20 15 10 0 Total HD HBP T2D Stroke Breast C Wang et al (2015) Genet in Med
VICKY 2.0 - Conditions
VICKY 2.0
VICKY 2.0 Trial – L aunched Fall 2016 MFHP vs VICKY ▪ N=151 currently enrolled (Target: 352) ▪ English and Spanish* speaking patients ▪ Block randomized (health literacy) to use a tool, followed by genetic counselor intake ▪ Outcomes: ▪ Accuracy (sensitivity) ▪ Communication with family members, clinicians (3 month follow-up)
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