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BMC Health Services Research
Published in: BMC Health Services Research 1/2020

Open Access 01-12-2020 | Care | Research article

At the intersection of precision medicine and population health: an implementation-effectiveness study of family health history based systematic risk assessment in primary care

Authors: Lori A. Orlando, R. Ryanne Wu, Rachel A. Myers, Joan Neuner, Catherine McCarty, Irina V. Haller, Melissa Harry, Kimberly G. Fulda, David Dimmock, Teji Rakhra-Burris, Adam Buchanan, Geoffrey S. Ginsburg

Published in: BMC Health Services Research | Issue 1/2020

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Abstract

Background

Risk assessment is a precision medicine technique that can be used to enhance population health when applied to prevention. Several barriers limit the uptake of risk assessment in health care systems; and little is known about the potential impact that adoption of systematic risk assessment for screening and prevention in the primary care population might have. Here we present results of a first of its kind multi-institutional study of a precision medicine tool for systematic risk assessment.

Methods

We undertook an implementation-effectiveness trial of systematic risk assessment of primary care patients in 19 primary care clinics at four geographically and culturally diverse healthcare systems. All adult English or Spanish speaking patients were invited to enter personal and family health history data into MeTree, a patient-facing family health history driven risk assessment program, for 27 medical conditions. Risk assessment recommendations followed evidence-based guidelines for identifying and managing those at increased disease risk.

Results

One thousand eight hundred eighty-nine participants completed MeTree, entering information on N = 25,967 individuals. Mean relatives entered = 13.7 (SD 7.9), range 7–74. N = 1443 (76.4%) participants received increased risk recommendations: 597 (31.6%) for monogenic hereditary conditions, 508 (26.9%) for familial-level risk, and 1056 (56.1%) for risk of a common chronic disease. There were 6617 recommendations given across the 1443 participants. In multivariate analysis, only the total number of relatives entered was significantly associated with receiving a recommendation.

Conclusions

A significant percentage of the general primary care population meet criteria for more intensive risk management. In particular 46% for monogenic hereditary and familial level disease risk. Adopting strategies to facilitate systematic risk assessment in primary care could have a significant impact on populations within the U.S. and even beyond.

Trial registration

Clinicaltrials.​gov number NCT01956773, registered 10/8/2013.
Literature
1.
2.
Institute of Medicine: Improving health in the community: a role for performance monitoring; 1997.
3.
4.
Stone NJ, Robinson JG, Lichtenstein AH, Bairey Merz CN, Blum CB, Eckel RH, Goldberg AC, Gordon D, Levy D, Lloyd-Jones DM, et al. 2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults: a report of the American College of Cardiology/American Heart Association task force on practice guidelines. Circulation. 2014;129(25 Suppl 2):S1–45.CrossRefPubMed
5.
Saslow D, Boetes C, Burke W, Harms S, Leach MO, Lehman CD, Morris E, Pisano E, Schnall M, Sener S, et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007;57(2):75–89.CrossRefPubMed
6.
Council NR. Toward precision medicine: building a knowledge network for biomedical research and a new taxonomy of disease. Washington, DC: The National Academies Press; 2011.
7.
Polubriaginof F, Tatonetti NP, Vawdrey DK. An assessment of family history information captured in an electronic health record. AMIA Ann Symp Proc. 2015;2015:2035–42.
8.
Qureshi N, Wilson B, Santaguida P, Carroll J, Allanson J, Culebro CR, Brouwers M, Raina P. Collection and use of Cancer family history in primary care; 2008.
9.
Gramling R, Nash J, Siren K, Eaton C, Culpepper L. Family physician self-efficacy with screening for inherited cancer risk. Ann Fam Med. 2004;2(2):130–2.CrossRefPubMedPubMedCentral
10.
Acton RT, Burst NM, Casebeer L, Ferguson SM, Greene P, Laird BL, Leviton L. Knowledge, attitudes, and behaviors of Alabama's primary care physicians regarding cancer genetics. Acad Med. 2000;75(8):850–2.CrossRefPubMed
11.
Linzer M, Poplau S, Grossman E, Varkey A, Yale S, Williams E, Hicks L, Brown RL, Wallock J, Kohnhorst D, et al. A cluster randomized trial of interventions to improve work conditions and clinician burnout in primary care: results from the healthy work place (HWP) study. J Gen Intern Med. 2015;30(8):1105–11.CrossRefPubMedPubMedCentral
12.
Berg AOBM, Botkin JR, Driscoll DA, Fishman PA, Guarino PD, Hiatt RA, Jarvik GP, Millon-Underwood S, Morgan TM, Mulvihill JJ, Pollin TI, Schimmel SR, Stefanek ME, Vollmer WM, Williams JK. National Institutes of Health state-of-the-science conference statement: family history and improving health. Ann Intern Med. 2009;151(12):872–7.CrossRefPubMed
13.
Weitzel KW, Alexander M, Bernhardt BA, Calman N, Carey DJ. The IGNITE network: a model for genomic medicine implementation and research. BMC Med Genet. 2015;9:1.
14.
Orlando LA, Buchanan AH, Hahn SE, Christianson CA, Powell KP, Skinner CS, Chesnut B, Blach C, Due B, Ginsburg GS, et al. Development and validation of a primary care-based family health history and decision support program (MeTree©). NCMJ. 2013;74(4):287–96.PubMed
15.
Berry DA, Iversen ES Jr, Gudbjartsson DF, Hiller EH, Garber JE, Peshkin BN, Lerman C, Watson P, Lynch HT, Hilsenbeck SG, et al. BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol. 2002;20(11):2701–12.CrossRefPubMed
16.
Gail MH, Brinton LA, Byar DP, Corle DK, Green SB, Schairer C, Mulvihill JJ: Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst 1989, 81(24):1879–1886. Online risk calculator available at http://​www.​cancer.​gov/​bcrisktool/​.
17.
Himes DO, Root AE, Gammon A, Luthy KE. Breast Cancer risk assessment: calculating lifetime risk using the Tyrer-Cuzick model. J Nurse Pract. 2016;12(9):581–92.CrossRef
18.
19.
Ridker PM, Buring JE, Rifai N, Cook NR. Development and validation of improved algorithms for the assessment of global cardiovascular risk in women: the Reynolds risk score. JAMA. 2007;297(6):611–9.CrossRefPubMed
20.
Stone NJ, Robinson J, Lichtenstein AH, Merz NB, Lloyd-Jones DM, Blum CB, McBride P, Eckel RH, Sanford Schwartz J, Anne C, Goldberg, et al. ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults. J Am Coll Cardiol. 2013;2013. https://​doi.​org/​10.​1016/​j.​jacc.​2013.​11.​002.
21.
Beadles CA, Ryanne Wu R, Himmel T, Buchanan AH, Powell KP, Hauser E, Henrich VC, Ginsburg GS, Orlando LA. Providing patient education: impact on quantity and quality of family health history collection. Familial Cancer. 2014;13(2):325–32.CrossRefPubMed
22.
Wu RR, Himmel TL, Buchanan AH, Powell KP, Hauser ER, Ginsburg GS, Henrich VC, Orlando LA. Quality of family history collection with use of a patient facing family history assessment tool. BMC Fam Pract. 2014;15(1):31.CrossRefPubMedPubMedCentral
23.
Wu RR, Myers RA, CA MC, Dimmock D, Farrell M, Cross D, Chinevere TD, Ginsburg GS, Orlando LA. Family health history N: protocol for the "implementation, adoption, and utility of family history in diverse care settings" study. Implement Sci. 2015;10:163.CrossRefPubMedPubMedCentral
24.
Wu RR, Myers RA, Sperber N, Voils CI, Neuner J, McCarty CA, Haller IV, Harry M, Fulda KG, Cross D, et al. Implementation, adoption, and utility of family health history risk assessment in diverse care settings: evaluating implementation processes and impact with an implementation framework. Genet Med. 2018;21:331–8.CrossRefPubMedPubMedCentral
25.
Hibbard JH, Stockard J, Mahoney ER, Tusler M. Development of the patient activation measure (PAM): conceptualizing and measuring activation in patients and consumers. Health Serv Res. 2004;39(4 pt 1):1005–25.CrossRefPubMedPubMedCentral
26.
27.
U. S. Preventive services task force: genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med. 2005;143(5):355–61.CrossRef
28.
Berliner JL, Fay AM. Practice issues Subcommittee of the National Society of genetic Counselors' familial Cancer risk counseling special interest G: risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of genetic counselors. J Genet Couns. 2007;16(3):241–60.CrossRefPubMed
29.
Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of genetic counselors: referral indications for cancer predisposition assessment. Genet Med. 2015;17(1):70–87.
30.
Kearon C, Akl EA, Comerota AJ, Prandoni P, Bounameaux H, Goldhaber SZ, Nelson ME, Wells PS, Gould MK, Dentali F, et al. Antithrombotic therapy for VTE disease: antithrombotic therapy and prevention of thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines. Chest. 2012;141(2 Suppl):e419S–96S.CrossRefPubMedPubMedCentral
31.
Besseling J, Reitsma JB, Gaudet D, Brisson D, Kastelein JJ, Hovingh GK, Hutten BA. Selection of individuals for genetic testing for familial hypercholesterolaemia: development and external validation of a prediction model for the presence of a mutation causing familial hypercholesterolaemia. Eur Heart J. 2017;38(8):565–73.
32.
Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS. American Association for the Study of liver D: diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54(1):328–43.CrossRefPubMed
33.
European Association for Study of Liver. EASL clinical practice guidelines: Wilson's disease. J Hepatol. 2012;56(3):671–85.CrossRef
34.
Hogarth DK, Rachelefsky G. Screening and familial testing of patients for alpha 1-antitrypsin deficiency. Chest. 2008;133(4):981–8.CrossRefPubMed
35.
Hampel H, Sweet K, Westman JA, Offit K, Eng C. Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. J Med Genet. 2004;41(2):81–91.CrossRefPubMedPubMedCentral
36.
Vogel VG, Costantino JP, Wickerham DL, Cronin WM, Cecchini RS, Atkins JN, Bevers TB, Fehrenbacher L, Pajon ER Jr, Wade JL 3rd, et al. Effects of tamoxifen vs raloxifene on the risk of developing invasive breast cancer and other disease outcomes: the NSABP study of Tamoxifen and Raloxifene (STAR) P-2 trial. JAMA. 2006;295(23):2727–41.CrossRefPubMed
37.
Rex DK, Johnson DA, Anderson JC, Schoenfeld PS, Burke CA, Inadomi JM. American College of G: American College of Gastroenterology guidelines for colorectal cancer screening 2009 [corrected]. Am J Gastroenterol. 2009;104(3):739–50.CrossRefPubMed
38.
Levin B, Lieberman DA, McFarland B, Smith RA, Brooks D, Andrews KS, Dash C, Giardiello FM, Glick S, Levin TR, et al. Screening and surveillance for the early detection of colorectal cancer and adenomatous polyps, 2008: a joint guideline from the American Cancer Society, the US multi-society task force on colorectal Cancer, and the American College of Radiology. CA Cancer J Clin. 2008;58(3):130–60.CrossRefPubMed
39.
D'Agostino RB Sr, Vasan RS, Pencina MJ, Wolf PA, Cobain M, Massaro JM, Kannel WB. General cardiovascular risk profile for use in primary care: the Framingham heart study. Circulation. 2008;117(6):743–53.CrossRefPubMed
40.
Kent KC, Zwolak RM, Jaff MR, Hollenbeck ST, Thompson RW, Schermerhorn ML, Sicard GA, Riles TS, Cronenwett JL. Society for Vascular S et al: screening for abdominal aortic aneurysm: a consensus statement. J Vasc Surg. 2004;39(1):267–9.CrossRefPubMed
41.
42.
43.
Wu RR, Myers RA, Buchanan AH, Dimmock D, Fulda KG, Haller IV, Haga SB, Harry ML, McCarty C, Neuner J, et al. Effect of Sociodemographic factors on uptake of a patient-facing information technology family health history risk assessment platform. Appl Clin Inform. 2019;10(2):180–8.CrossRefPubMedPubMedCentral
44.
Scheuner MT, McNeel TS, Freedman AN. Population prevalence of familial cancer and common hereditary cancer syndromes. The 2005 California health interview survey. Genet Med. 2010;12(11):726–35.CrossRefPubMed
45.
Besseling J, Sjouke B, Kastelein JJ. Screening and treatment of familial hypercholesterolemia - lessons from the past and opportunities for the future (based on the Anitschkow lecture 2014). Atherosclerosis. 2015;241(2):597–606.CrossRefPubMed
46.
De Sutter J, De Bacquer D, Kotseva K, Sans S, Pyorala K, Wood D. De backer G, group EUAoSPtItREIs: screening of family members of patients with premature coronary heart disease; results from the EUROASPIRE II family survey. Eur Heart J. 2003;24(3):249–57.CrossRefPubMed
47.
Powell KP, Christianson CA, Hahn SE, Dave G, Evans LR, Blanton SH, Hauser ER, Agbaje AB, Orlando LA, Ginsburg GS, et al. Collection of family health history for assessment of chronic disease risk in primary care. NCMJ. 2013;74(4):279–86.PubMed
48.
Cohn WF, Ropka ME, Pelletier SL, Barrett JR, Kinzie MB, Harrison MB, Liu Z, Miesfeldt S, Tucker AL, Worrall BB, et al. Health heritage, a web-based tool for the collection and assessment of family health history: initial user experience and analytic validity. Public Health Genomics. 2010;13(7–8):477–91.CrossRefPubMed
49.
Facio FM, Feero WG, Linn A, Oden N, Manickam K, Biesecker LG. Validation of my family health portrait for six common heritable conditions. Genet Med. 2010;12(6):370–5.CrossRefPubMedPubMedCentral
50.
Qureshi N, Carroll JC, Wilson B, Santaguida P, Allanson J, Brouwers M, Raina P. The current state of cancer family history collection tools in primary care: a systematic review. Genet Med. 2009;11(7):495–506.CrossRefPubMed
51.
Wu RRMR, Sperber N, Voils C, Neuner J, McCarty C, Haller IV, Harry M, Fulda KG, Cross D, Dimmock D, Rakhra-Burris T, Buchanan A, Ginsburg GS, Orlando LA. Implementation, adoption, and utility of family health history risk assessment in diverse care settings: evaluating implementation processes and impact with an implementation framework. Genet Med. 2019;21:331–8.
52.
Bauer AM, Rue T, Keppel GA, Cole AM, Baldwin LM, Katon W. Use of mobile health (mHealth) tools by primary care patients in the WWAMI region practice and research network (WPRN). J Am Board Fam Med. 2014;27(6):780–8.CrossRefPubMedPubMedCentral
53.
Donoghue C, Kaplan C, Howe R, Esserman L, Pérez-Stable E, Ozanne E. Tablet-based collection of patient-reported data in diverse, low-income populations: a case study in breast cancer risk assessment. J Health Disparities Res Pract. 2018;11:5.
54.
Murray MF, Giovanni MA, Klinger E, George E, Marinacci L, Getty G, Brawarsky P, Rocha B, Orav EJ, Bates DW, et al. Comparing electronic health record portals to obtain patient-entered family health history in primary care. J Gen Intern Med. 2013;28(12):1558–64.CrossRefPubMedPubMedCentral
Metadata
Title
At the intersection of precision medicine and population health: an implementation-effectiveness study of family health history based systematic risk assessment in primary care
Authors
Lori A. Orlando
R. Ryanne Wu
Rachel A. Myers
Joan Neuner
Catherine McCarty
Irina V. Haller
Melissa Harry
Kimberly G. Fulda
David Dimmock
Teji Rakhra-Burris
Adam Buchanan
Geoffrey S. Ginsburg
Publication date
01-12-2020
Publisher
BioMed Central
Keyword
Care
Published in
BMC Health Services Research / Issue 1/2020
Electronic ISSN: 1472-6963
DOI
https://doi.org/10.1186/s12913-020-05868-1

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