Strategies, actions, and outcomes of pilot state programs in public health genomics, 2003-2008.

State health departments in Michigan, Minnesota, Oregon, and Utah explored the use of genomic information, including family health history, in chronic disease prevention programs. To support these explorations, the Office of Public Health Genomics at the Centers for Disease Control and Prevention provided cooperative agreement funds from 2003 through 2008. The 4 states' chronic disease programs identified advocates, formed partnerships, and assessed public data; they integrated genomics into existing state plans for genetics and chronic disease prevention; they developed projects focused on prevention of asthma, cancer, cardiovascular disease, diabetes, and other chronic conditions; and they created educational curricula and materials for health workers, policymakers, and the public. Each state's program was different because of the need to adapt to existing culture, infrastructure, and resources, yet all were able to enhance their chronic disease prevention programs with the use of family health history, a low-tech "genomic tool." Additional states are drawing on the experience of these 4 states to develop their own approaches.

Family history of colorectal cancer: clinicians' preventive recommendations and patient behavior.

Few population-based studies have addressed the role that family history of colorectal cancer (CRC) plays in clinician decision making or patient health choices. The objective of this study was to evaluate the effect of family history of CRC on clinician practice, patient CRC screening, and patient preventive behavior. We analyzed 2008 Oregon Behavioral Risk Factor Surveillance System data to examine associations between family history of CRC and 1) patient-reported clinician recommendations, 2) perceived risk of developing CRC, 3) adoption of preventive and screening behaviors, and 4) CRC risk factors among 1,795 respondents without CRC. A family history of CRC was positively associated with a higher likelihood of respondents reporting that their clinicians discussed colorectal cancer screening (OR, 4.2; 95% CI, 2.4-7.4) and of respondents having colorectal screening within the recommended time period (OR, 2.2; 95% CI, 1.3-3.9). A family history of CRC was also associated with respondents reporting lifestyle changes to prevent CRC (OR, 2.6; 95% CI, 1.7-4.0). A family history of CRC may prompt clinicians to recommend screening and preventive behavior changes and motivate patients to adopt such strategies.

Outcomes of genetics services: creating an inclusive definition and outcomes menu for public health and clinical genetics services.

Third party payers, funding agencies, and lawmakers often require clinicians and public health agencies to justify programs and services by documenting results. This article describes two assessment tools--"Defining Genetics Services Framework" and "Genetics Services Outcomes Menu," created to assist public health professionals, clinicians, family advocates, and researchers to plan, evaluate, and demonstrate the effectiveness of genetics services. The tools were developed by a work group of the Western States Genetics Services Collaborative (WSGSC) consisting of public health genetics and newborn screening professionals, family representatives, a medical geneticist, and genetic counselors from Alaska, California, Hawaii, Idaho, Oregon, and Washington. The work group created both tools by an iterative process of combining their ideas with findings from a literature and World Wide Web review. The Defining Genetics Services Framework reflects the diversity of work group members. Three over-lapping areas of genetics services from public health core functions to population screening to clinical genetics services are depicted. The Genetics Services Outcomes Menu lists sample long-term outcomes of genetics services. Menu outcomes are classified under impact areas of Knowledge and Information; Financing; Screening and Identification; Diagnosis, Treatment, and Management; and Population Health. The WSGSC incorporated aspects of both tools into their Regional Genetics Plan.

Influence of family history of diabetes on health care provider practice and patient behavior among nondiabetic Oregonians.

INTRODUCTION: People with a family history of diabetes are at increased risk of developing diabetes; however, the effect of family history of diabetes on health care provider practice and patient behavior has not been well defined. METHODS: We analyzed data from the 2005 Oregon Behavioral Risk Factor Surveillance System, a state-based, random-digit-dialed telephone survey, to evaluate, among people with diabetes, associations between family history of diabetes and 1) patients' reports of health care provider practices, 2) patients' perceived risk of developing diabetes, and 3) patients' behaviors associated with an increased risk of developing diabetes. RESULTS: Compared with respondents at average risk, respondents with a positive family history (strong or moderate familial risk for diabetes) were more likely to report that their health care provider collects family history information about diabetes, discusses the risk of developing diabetes or other chronic conditions, and makes recommendations to change their diet or exercise behaviors to reduce the chance of developing diabetes. Respondents with a strong family history of diabetes were 5 times more likely to be very or somewhat worried about developing diabetes than were people at average risk (odds ratio [OR], 5.0; 95% confidence interval [CI], 4.0-6.2). Compared with respondents at average risk, respondents with a strong family history were more likely to report making changes in diet and exercise (OR, 1.7; 95% CI, 1.4-2.1). CONCLUSION: Integrating family history of diabetes into clinical practice offers opportunities to improve the effectiveness of diabetes detection and to promote interventions aimed at preventing or delaying the development of diabetes in people at high risk.

Addressing the obesity epidemic: a genomics perspective.

Genomics is the study of the entire human genome and involves not only studying the actions of single genes but also the interactions of multiple genes with each other and with the environment. This article emphasizes the multifactorial nature of common obesity, which is caused by the interaction of genes, environment, and lifestyle. Individual variation in genes that influence behavior, satiety, and taste suggests that a one-size-fits-all approach to reducing or preventing obesity may be ineffective. Data are not yet available to allow for personalized obesity interventions based on genetic predisposition. However, a genomics approach may provide a useful framework for addressing the obesity epidemic. More research is needed before specific targeted public health interventions that include genomic strategies can be effectively integrated into addressing obesity in public health practice.

Patterns of cancer genetic testing: a randomized survey of Oregon clinicians.

Introduction. Appropriate use of genetic tests for population-based cancer screening, diagnosis of inherited cancers, and guidance of cancer treatment can improve health outcomes. We investigated clinicians' use and knowledge of eight breast, ovarian, and colorectal cancer genetic tests. Methods. We conducted a randomized survey of 2,191 Oregon providers, asking about their experience with fecal DNA, OncoVue, BRCA, MMR, CYP2D6, tumor gene expression profiling, UGT1A1, and KRAS. Results. Clinicians reported low confidence in their knowledge of medical genetics; most confident were OB-GYNs and specialists. Clinicians were more likely to have ordered/recommended BRCA and MMR than the other tests, and OB-GYNs were twice as likely to have ordered/recommended BRCA testing than primary care providers. Less than 10% of providers ordered/recommended OncoVue, fecal DNA, CYP2D6, or UGT1A1; less than 30% ordered/recommended tumor gene expression profiles or KRAS. The most common reason for not ordering/recommending these tests was lack of familiarity. Conclusions. Use of appropriate, evidence-based testing can help reduce incidence and mortality of certain cancers, but these tests need to be better integrated into clinical practice. Continued evaluation of emerging technologies, dissemination of findings, and an increase in provider confidence and knowledge are necessary to achieve this end.

Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors.

The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of1. providing preconception reproductive options2. improving pregnancy outcome and identifying reproductive choices3. reducing morbidity and mortality in the 1st years of life, and4. respecting psychosocial and multicultural issues.The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow-up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal-fetal serum marker screening and high-resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.