BackgroundPhenylketonuria (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 findingsPrimary 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.ConclusionTreatment 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.

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.

The Michigan Department of Community Health (MDCH) stores almost 4 million dried blood spot specimens (DBS) in the Michigan Neonatal Biobank. DBS are collected from newborns under a mandatory public health program to screen for serious conditions. At 24 to 36 hours of age, a few drops of blood are taken from the baby’s heel and placed on a filter paper card. The card is sent to the state public health laboratory for testing. After testing, MDCH retains the spots indefinitely for the personal use of the patient and also, pursuant to a 2000 law, for possible research.

Purpose: Focus groups were utilized as a mechanism to solicit input from the public in developing the Michigan BioTrust for Health, a program of the Michigan Department of Community Health to improve storage conditions and promote use of residual newborn screening dried blood spots in health research. Methods: In 2008–2009, 10 diverse communities representative of the general public that might have special concerns as stakeholders in the BioTrust were identified, and 4 discussion questions were developed for use with a standard agenda. Focus group discussions were audio-recorded and transcribed by department staff. Qualitative conclusions resulting from the group discussions were compared with written, quantitative pre- and post-survey responses completed by individual participants. Results: Overall, there was considerable concurrence of opinion across the focus groups. Participants were generally positive about the BioTrust; a sentiment that held true across different demographic populations with over 85% of participants stating they would support use of residual dried blood spots in health research. Conclusion: The focus group process and findings played an important role for public health policy makers in affirming the importance of engaging and informing the public and led to concrete steps to foster community support.

Objectives: The level of support among Michigan adults for the use of residual newborn screening dried blood spots (DBS) was investigated. Methods: We analyzed data from 4 questions on the 2008 Michigan Behavioral Risk Factor Surveillance System (n = 3,108). The questions asked about general support for the use of DBS for research and for research investigating childhood diseases, adult diseases and diseases related to environmental exposures. Results: The majority of adults (72.3%) favored the use of DBS for research intended to benefit the health of residents. With more question specificity, a higher proportion of adults (84.2%–86.8%) were found to favor the use of DBS for research, and a lower proportion had no opinion. The odds of favoring use were higher among those who were younger, female, white, healthy, or with at least a high school degree. Conclusions: This is the first population survey of adult attitudes regarding use of DBS for different types of health research, with results showing considerable public support. The findings are being used in community outreach efforts and highlight the need to investigate opposition in vulnerable populations.