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Progress in Public Health Genomics Depends on Measuring Population Level Outcomes

Posted on by Debra Lochner Doyle, Screening and Genetics Unit, Washington State Department of Health, Kent, Washington; Mindy Clyne, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland; David Chambers, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland; Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia

DNA and a US map and a person pointing to a graphPublic health genomics is a relatively young field concerned with the effective and responsible translation of genomic science into population health benefits. In the past few years, the field has witnessed the emergence of several state public health genomics programs beyond the traditional domain of newborn screening. The field has focused on preventing disease and death from three tier 1 autosomal dominant conditions, collectively affecting more than 2 million people in the United States (Lynch syndrome, hereditary breast and ovarian cancer, and familial hypercholesterolemia).

As in other areas of public health, progress in the field depends on the ability to measure the impact of programs on the delivery of services and interventions, and health outcomes. Yet few metrics exist in this field. The Healthy People 2020 genomics objectives have served as a baseline for encouraging public health to measure progress in hereditary cancers, such as Lynch syndrome and breast and ovarian cancer.

Identifying Metrics to Measure Impact of Public Health Genomic Programs

A recent publication identified examples of performance objectives and outcome metrics to be used within public health practice for successful implementation of genomic activities. The publication is the product of the National Academies of Medicine Genomics and Population Health Action Collaborative (GPHAC). GPHAC was formed in 2015 in collaboration with the CDC Office of Public Health Genomics, and the National Cancer Institute. The group is composed of key stakeholders from federal and state programs, researchers, patient advocates, and clinical practitioners with expertise in public/population health, health disparities, health literacy, implementation science, medical genetics, and patient advocacy. The overarching mission is to develop processes for the effective and timely integration of genomics into public health programs.

Recognizing the need to include implementation outcomes, the authors used a framework from the field of implementation research. Two evidence-based genomic applications were used as examples of “interventions”, including 1) universal tumor testing for Lynch syndrome (LS) in all individuals with newly diagnosed colorectal cancer, and 2) screening to identify family history associated with hereditary breast and ovarian cancer (HBOC) syndrome, accepting that the outcome measures may be applied to other genetic conditions. Embedding these applications within existing health-care services with efforts to monitor and evaluate at the public health level are regarded as the main implementation strategies presented in the framework. The outcome measures enable establishment of baseline targets and recording of progress and impact at the population level.

Overall, 38 outcome measures and corresponding performance objectives were identified. Eighteen of these measures could be applicable to more general genomic applications, including multiple cancer genetic tests. Twelve were specific to both HBOC and LS, seven specific only to LS, and one specific only to HBOC. Three performance objectives and outcome measures were deemed top priority which all states are encouraged to pursue; (i) the proportion of persons with newly diagnosed CRC who receive genetic testing to identify LS, (ii) the proportion of women with a family history of HBOC/LS who receive genetic counseling, and (iii) the use of cascade screening for HBOC/LS. Sixteen additional outcomes were considered measures that state programs could currently capture but were not identified as a priority, 2 outcome measures that states could readily perform if data sources are available, and 17 measures that were considered aspirational because no obvious data source are currently available for them (See table 1).

What Gets Measured, Gets Done

The proposed metrics should stimulate further dialogue and hopefully will accelerate efforts to further refine impact of genomics on population health. The list of performance objectives and outcomes measures is by no means complete. As additional evidence-based genomic applications become available, additional measures could be identified.

In addition, GPHAC members are currently conducting interviews with representatives of state health departments to better understand the barriers and facilitators to public health-based genomics programs and are exploring possible approaches for programs to alleviate health disparities in the implementation of public health genomics. GPHAC participants are also developing an online guide that will provide information for those interested in building genomics-based population health programs.

Looking ahead, GPHAC will expand its focus from state public health systems to include health care delivery systems. GPHAC will also be focusing on developing policy and public health approaches to cascade screening for three tier 1 conditions, the process by which screening takes place in first degree, at-risk relatives of patients who have a particular condition. Finally, GPHAC is also exploring collaborative research protocols on the benefits and challenges associated with population-based genetic screening programs, based primarily in health systems (e.g., Geisinger Health System).

These are still the early days of public health genomics. Ongoing activities of GPHAC should serve as a reminder that measuring progress entails having outcome metrics, including implementation outcomes, and that ultimately what gets measured gets done.

Outcome Category Performance Objective State Outcome Measure Data Source
I. Top priority outcomes all states are encouraged to pursue:
Access to Services Increase the proportion of women with a family history of HBOC/LS who receive genetic counseling (reworded version of HP2020 Objective) Number of women with a family history of HBOC/LS who receive genetic counseling. National Health Interview Survey by CDC/NCHS; State BRFSS; State PRAMS Cancer module; Claims data
Increase the proportion of persons with newly diagnosed colorectal cancer who receive genetic testing to identify LS (or other familial colorectal cancer syndromes (HP2020 Objective) Number of persons with newly diagnosed colorectal cancer who receive genetic testing to identify LS  (or familial colorectal cancer syndromes) State Cancer registries; Surveillance Epidemiology and End Results program (SEER); State BRFSS
Healthcare Performance Increase the number of family members (per family) tested for HBOC/LS through cascade screening Number of family members screened following identification of HBOC/LS mutations Claims data; Data collected from genetics providers in clinics across the state; number of single mutation tests ordered in state as reported by ~5 largest cancer genetic testing laboratories
II. Additional outcomes states should pursue:
Implementation Feasibility Mechanisms exist for adequate billing and reimbursement of services Number of health plans with existing reimbursement for services CPT codes; payer policies; licensure data; hospital credentialing data
Hospitals have the infrastructure needed to conduct universal tumor screening (i.e., pathology, tracking, genetic counseling and follow-up to ensure effectiveness) Number of hospitals with the following infrastructure: pathology, tracking systems, counselors, follow-up procedures Survey data
Implementation Acceptability Increase the number of providers who are comfortable providing HBOC/LS screening services Number of providers for each item Survey data
Increase the number of providers who are willing to provide HBOC/LS screening services Number of providers for each item Survey data
Increase the number of providers who appropriately refer HBOC/LS at-risk families Number of providers for each item Survey data
Implementation Sustainability Mechanisms for adequate billing and reimbursement of services are maintained over time Description of existing mechanism for billing and reimbursement CPT codes; payer policies; licensure data; hospital credentialing data
Training programs continue to recruit, train and graduate genetic service providers Number of training programs and numbers of applicants/graduates for each type of provider; number of slots being filled; types of applicants (i.e., diversity) ABGC, ABMG, and ANCC data; training program data
Implementation Uptake Increase the number of hospitals/institutions that have implemented tumor screening to identify LS Number of hospitals LSSN membership data; Survey hospitals on current practices
Service Safety Increase appropriate genetic counseling linked with HBOC/LS testing Frequency of genetic counseling; frequency of HBOC/LS Testing Claims data; Data collected from genetics providers
Reduce misinterpreted genetic test results Quality control of interpreted tests Lab Utilization Service data
Reduced inappropriate treatments (pharmacologic, surgical or other) due to misinterpreted HBOC/LS genetic test results. Number of inappropriate treatments from quality control of interpreted tests FDA guidelines for testing validity
Service Timeliness People can access genetic services in a timely manner Time from referral
Contact facilities and determine “3rd to available new” appt. times
Access to Services Providers are available to perform genetic services including in rural and frontier areas Number of providers across geographical areas ABGC, ABMG, and ANCC credentialing and state licensing data
Increase the availability of telegenetic services (telemedicine). Number of originating sites connected to a distant site Regional Telehealth Offices
Lynch syndrome tumor screening adoption Increase the number of hospitals/institutions that have implemented tumor screening to identify LS Number of hospitals/Institutions offering tumor screening LSSN membership data; Survey hospitals on current practices
Healthcare Performance Increase the number of hospitals performing tumor screening that have a tracking system in place Number of hospitals with tracking system for tumor screening LSSN; survey data
Public Health Infrastructure Increase state’s readiness to implement public health genetics programs Level of readiness, including willingness and capacity to implement public health genetics Survey states
States have access to reliable information/data to inform program planning and policy. Numbers and types of population level data inclusive of genomics BRFSS; cancer registry; internet access to payer policies; other state’s public health genetics program activities and information
Increase partnerships with regional clinics, academic institutions, CDC-funded programs, state programs, non-profits, insurance groups and industry to ensure efforts are sustainable Number of partnerships Survey states
III. Outcomes states should pursue if data sources are available:
Service Equity Decrease health inequalities (population subgroups who are more vulnerable than others due to social forces) regarding access to genetic testing/counseling Number of genetic tests/counseling sessions by sub-group Claims data; BRFSS
Access to Services Increase the proportion of individuals diagnosed with potentially heritable cancers who undergo genetic testing Number of individuals diagnosed with potentially heritable cancers who undergo genetic testing State cancer registries; survey data
IV. Aspirational Outcomesa:
Implementation Feasibility Health care providers receive initial training and periodic refresher training to diagnose, treat and counsel families for HBOC/LS in accordance with the most current NCCN recommendations. Number or percentage of facilities offering initial training on NCCN guidelines for HBOC/LS; Number or percentage of providers receiving initial training on NCCN guidelines for HBOC/LS; Number of facilities offering periodic refresher training on NCCN guidelines Training program data; reporting data indicating number of providers trained and efficacy of training on provider knowledge
Implementation Penetration Increase the proportion of providers in rural and frontier areas that screen and refer patients for HBOC/LS Number or percentage of providers delivering HBOC/LS screening; number of patients screened for HBOC/LS in rural and frontier counties; number who screen positive; percentage of population in rural and frontier areas screened Survey systems/providers
Service Efficiency Increase the proportion of clinics/hospitals/facilities using genetic laboratory utilization services to ensure the most appropriate genetic test(s) are ordered Proportion of clinics/hospitals/facilities using genetic laboratory utilization services Time-motion data; Survey data; policy review findings
Service Patient-Centeredness Cancer patient treatment plans include genetic counseling at the time of diagnosis Number or percentage of facilities that include genetic counseling in treatment plans for new patients; number of providers with additional genetic training; number of new providers with genetic fellowship Survey or reporting from oncology programs
Client Satisfaction Families receive written visit summary information, including risk assessment that can be shared with other family members Number of facilities that have policies in place for written visit summaries; number of families who reported receiving materials; number or percentage of families who receive a visit summary and information they can share with families Patient satisfaction surveys; site level policies
Increase the proportion of patients who report timely appointments for genetic counseling/testing Number or percentage of patients who report good or very good levels of satisfaction Patient satisfaction surveys
Client Symptomatology Symptoms or complications from HBOC/LS are eliminated or decreased through early identification and treatment Number of HBOC or LS associated cancers that are reported after known mutation identification Chart review data
Access to Services Increase Number or percentage of women diagnosed at or below age 50 with breast cancer who undergo genetic risk assessment (per NCCN guidelines) Number or percentage of women diagnosed at or below age 50 with breast cancer who undergo genetic risk assessment (per NCCN guidelines) Claims data; national surveys
Lynch Syndrome Tumor Screening Reach Increase the number of tumors screened for LS at each institution Number of tumors screened for LS by Institution LSSN membership data
All newly diagnosed patients with CRC are screened for LS Number of CRC patients screened for LS Proportion of patients diagnosed with CRC who have received screening
Healthcare Performance Decreased incidence of HBOC/LS Incidence rate of HBOC/LS Cancer Registries; SEER; Claims data
Decreased morbidity and mortality of HBOC and LS Morbidity and mortality rate of HBOC and LS Cancer Registries; SEER; Claims data
Public Health Infrastructure Initiate bidirectional reporting by identifying individuals at increased risk for hereditary cancer through personal history in cancer registry Number of state cancer registries that offer bidirectional reporting; number of investigations conducted/year; number of hospital cancer registries that have the capacity for bidirectional reporting Cancer registries

a-data sources listed here are suggested for further development.
Abbreviations: HBOC, hereditary breast and ovarian cancer; LS, Lynch syndrome; HP2020, Healthy People 2020; CDC, Centers for Disease Control and Prevention; BRFSS, Behavioral Risk Factor Surveillance System; PRAMS, Pregnancy Risk Assessment Monitoring System; SEER, Surveillance, Epidemiology and End Results; CPT, Current Procedural Terminology; ABGC, American Board of Genetic Counseling; ABMG, American Board of Medical Genetics; ANCC, American Nurses Credentialing Center; LSSN, Lynch Syndrome Screening Network; FDA, Food and Drug Administration; NCCN, National Comprehensive Cancer Network

Posted on by Debra Lochner Doyle, Screening and Genetics Unit, Washington State Department of Health, Kent, Washington; Mindy Clyne, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland; David Chambers, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland; Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags

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