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.

Sudden cardiac death of the young in Michigan: development and implementation of a novel mortality review system.

Advances in screening, detection and treatment make Sudden Cardiac Death of the Young (SCDY) a potentially preventable condition. Since hereditary causes account for many deaths, identification of an affected individual has implications for immediate relatives; who should receive targeted screening with the aim of preventing SCDY. To develop a mortality review process for SCDY and to identify potential unmet needs for family-based, medical system and public health interventions. The Michigan Department of Community Health and Michigan State University developed a system for investigating SCDY. Review of medical records and next-of-kin (NOK) interviews were conducted. A de-identified summary of each case was presented to an expert panel. The panel identified factors that contributed to the death and possible actions to prevent future deaths. If the case was deemed to have a likely heritable cause, NOK were notified of a possible increased risk and need for evaluation of immediate family members. Twenty-three deaths aged 1-39 years between 2006 and 2008, were selected for review. Sixteen NOK were interviewed. Several primary and secondary prevention measures were identified, including enhanced pre-participation sports screening; provider education; public awareness of risk factors, symptoms, emergency response training for coaches and the general public; and creation and dissemination of emergency response and medical examiner protocols. Seventeen NOK were notified of the potential heritable cause. Investigation of these deaths has led to identification of individual, family, public and provider needs and motivated policy makers to initiate changes to prevent future SCDY.

Michigan genetics plan: a report on the needs assessment process.

During 2000-02, Michigan Department of Community Health-Hereditary Disorders and Newborn Screening Programs conducted a needs assessment to develop a comprehensive state genetics plan. The goal was to define the priorities of patients and their families, the general public, health and human service providers, and educators for all four stages of the life cycle (prenatal, newborn, childhood, and adult). The needs assessment process was used to identify available resources in addition to the strengths, weaknesses, and gaps in the current genetic services system. A five-step needs assessment process was designed to collect both quantitative and qualitative data. In preparing for the advancements in genetic technology and related services, the results from this assessment are being used to help refocus existing program functions, delineate goals and objectives for the strategic plan, and guide future genetic services delivery and infrastructure efforts. A 5-year state genetics plan for Michigan was created with input from nearly 1,000 residents.

The financial and time burden associated with phenylketonuria treatment in the United States.

BACKGROUND: Phenylketonuria (PKU) imposes a substantial burden on people living with the condition and their families. However, little is known about the time cost and financial burden of having PKU or caring for a child with the condition. METHODS AND FINDINGS: Primary data were collected with a detailed cost and utilization survey. Primary outcomes included utilization and out-of-pocket costs of medical services, medical formula, and prescribed low-protein food consumption, as well as the time and perceived effort involved in following the PKU diet. Respondents were people living with PKU or parents of children with PKU identified through a state newborn screening program database. Secondary administrative claims data were also used to calculate mean total, insurer, and out-of-pocket payments in inpatient, outpatient (office visits, emergency room, and laboratory tests), and pharmacy settings for privately insured persons with PKU. Payments were calculated for sapropterin and for PKU formula.In primary data analysis (children n = 32, adults n = 52), annual out-of-pocket costs were highest for low-protein foods (child = $1651; adult = $967) compared with other categories of care. The time burden of PKU care was high; families reported spending more than 300 h per year shopping for and preparing special diet foods.In secondary data analysis, children 12-17 years old had the highest average medical expenditures ($54,147; n = 140) compared to children 0-11 years old ($19,057; n = 396) and adults 18 years and older ($40,705; n = 454). Medication costs were the largest contributor to medical costs, accounting for 61-81% of total costs across age groups. Sapropterin was the largest driver of medication costs, accounting for 85% of child medication costs and 92% of adult medication costs. CONCLUSION: Treatment for PKU incurs a substantial time and cost burden on persons with PKU and their families. Estimated medical expenditures using claims data varied by age group, but sapropterin represented the largest cost for PKU treatment from a payer perspective across age groups.

Blood Pressure Sunday: introducing genomics to the community through family history.

BACKGROUND: Family history of a chronic disease, such as high blood pressure, is an important predictor of future disease. The integration of genomics information into public health activities offers the opportunity to help raise awareness among populations at high risk for high blood pressure. CONTEXT: The prevalence of high blood pressure in blacks at any age is about twice that of whites. Detroit is second among major U.S. cities in the percentage of residents who are black (81.6%). According to data from the Behavioral Risk Factor Surveillance System 1998-2002, the perceived health status of Detroit respondents was one of the worst in Michigan; 17.4% of Detroit respondents reported no health care coverage; 69.6% reported being obese or overweight; and 33.1% reported no physical activity. METHODS: The Michigan Department of Community Health and the University of Michigan's Center for Genomics and Public Health collaborated on a pilot program to develop a worksheet emphasizing the importance of personal family history of high blood pressure. The handout was distributed to individuals at primarily black, Detroit-area churches during an annual screening event for high blood pressure and stroke. CONSEQUENCES: Approximately 500 handouts were distributed; a collaborative effort was achieved; genomics information was integrated into an existing program; the ability to reach churches in a predominantly black community was demonstrated; consumers reported interest in the subject matter; and an appropriate literacy level for the handout was attained. INTERPRETATION: The strengths of this pilot program and suggested modifications may serve to guide others in genomics and/or chronic disease programs in future endeavors.

Genomics and public health: development of Web-based training tools for increasing genomic awareness.

In 2001, the Centers for Disease Control and Prevention funded three Centers for Genomics and Public Health to develop training tools for increasing genomic awareness. Over the past three years, the centers, working together with the Centers for Disease Control and Prevention's Office of Genomics and Disease Prevention, have developed tools to increase awareness of the impact genomics will have on public health practice, to provide a foundation for understanding basic genomic advances, and to translate the relevance of that information to public health practitioners' own work. These training tools serve to communicate genomic advances and their potential for integration into public heath practice. This paper highlights two of these training tools: 1) Genomics for Public Health Practitioners: The Practical Application of Genomics in Public Health Practice, a Web-based introduction to genomics, and 2) Six Weeks to Genomic Awareness, an in-depth training module on public health genomics. This paper focuses on the processes and collaborative efforts by which these live presentations were developed and delivered as Web-based training sessions.

Family History of Sudden Cardiac Death of the Young: Prevalence and Associated Factors.

Sudden cardiac death of the young (SCDY) is a devastating event for families and communities. Family history is a significant risk factor for this potentially preventable cause of death, however a complete and detailed family history is not commonly obtained during routine health maintenance visits. To estimate the proportion of adults with a family history of SCDY, the Michigan Department of Health and Human Services (MDHHS) Genomics Program included two questions within the 2007 Michigan Behavioral Risk Factor Survey (MiBRFS). Prevalence estimates and 95% confidence intervals were calculated. Among adults in Michigan, 6.3% reported a family history of SCDY, with a greater prevalence among blacks, those with lower household income, and those with less education. Among those reporting a family history of SCDY, 42.3% had at least one first-degree relative and 26.2% had multiple affected family members. This is the first study to demonstrate the prevalence of family history of SCDY while also highlighting key sociodemographic characteristics associated with increased prevalence. These findings should guide evidence-based interventions to reach those at greatest risk.

From newborn screening to population health research: implementation of the Michigan BioTrust for health.

In June 2009, the Michigan Department of Community Health launched the Michigan BioTrust for Health to improve preservation and utility of residual dried blood spots from newborn screening (NBS) for biomedical research while maintaining public support and integrity of NBS. In this article, we chronicle implementation of the BioTrust and document its impact on NBS. Overall, the percentage of new parents who consent to possible future research use of their children's dried blood spots through the BioTrust has remained consistent with previous public opinion surveys. No significant increase in refusal of NBS has been observed despite increased publicity. There was, however, a slight increase in requests to destroy samples following completion of NBS, indicating readily accessible opt-out information. Given adequate training and cooperation of birthing hospital staff, as well as outreach education for parents and health-care providers, we conclude it is possible to implement a biobanking initiative without adversely impacting NBS.

Barriers to access: results from focus groups to identify genetic service needs in the community.

OBJECTIVE: In efforts to prepare for implications of genomic advances, a needs assessment was undertaken from 2000 to 2002 by the Michigan Department of Community Health to develop a comprehensive state plan for genetic services. This paper reports on the access barriers to genetic services identified from focus groups conducted with members of the community and genetic service providers. METHODS: Included in this study were the following five target groups: a sickle cell anemia parent support group, a Native American student group, parents of children with birth defects or other special health care needs, adults with genetic conditions, and genetic service providers from the statewide genetic counselors' association. Discussions of all groups were audio taped, transcribed and analyzed using content analysis. RESULTS: Individual barriers to access identified included lack of awareness of personal risk, lack of knowledge of genetic services and resources, and lack of trust/fear of discrimination. Institutional barriers to access identified included provider lack of knowledge and awareness of genetic services, lack of workforce, coordination of care, cost and insurance, and location from services. CONCLUSIONS: Barriers to access cut across overlapping dimensions and overcoming these barriers will require solutions that target multiple dimensions in order to be effective.