Table 1.

Performance Objectives, State Outcome Measures and their Data Sources for Genomic Services

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. Outcomes states can readily perform:
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
	Reduce misinterpreted genetic test results	Quality control of interpreted tests
	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	of hospital 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.	Number’s 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 can readily perform 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
	Data sources exist to measure outcomes at multiple levels	Levels need to be identified to determine outcome measures
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