Identifying Perceptions and Preferences of the General Public Concerning Universal Screening of Children for Familial Hypercholesterolaemia.

BACKGROUND/AIMS: Familial hypercholesterolaemia (FH) is a common genetic disorder that, if untreated, predisposes individuals to premature coronary heart disease. As most individuals with FH remain undiagnosed, new approaches to detection are needed and should be considered a priority in public health genomics. Universal screening of children for FH has been proposed, and this study explores public perspectives on the acceptability of this approach. METHODS: A one-day deliberative public forum was held in Perth, WA, Australia. Thirty randomly selected individuals were recruited, with self-reported sociodemographic characteristics used to obtain discursive representation. Participants were presented with information from a variety of perspectives and asked to discuss the information provided to identify points of consensus and disagreement. The data collected were analysed using thematic analysis. RESULTS: Of the 17 participants at the forum, 16 deemed universal screening of children for FH to be acceptable. Fifteen of these 16 believed this was best performed at the time of an immunisation. Participants proposed a number of conditions that should be met to reduce the likelihood of unintended harm resulting from the screening process. DISCUSSION/CONCLUSION: The outcomes of the forum suggest that establishing a universal screening programme for FH in childhood is acceptable to the general public in WA.

The Evolution of Public Health Genomics: Exploring Its Past, Present, and Future.

Public health genomics has evolved to responsibly integrate advancements in genomics into the fields of personalized medicine and public health. Appropriate, effective and sustainable integration of genomics into healthcare requires an organized approach. This paper outlines the history that led to the emergence of public health genomics as a distinguishable field. In addition, a range of activities are described that illustrate how genomics can be incorporated into public health practice. Finally, it presents the evolution of public health genomics into the new era of "precision public health."

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments.

BACKGROUND: Consideration of expanded carrier screening has become an emerging issue for governments. However, traditional criteria for decision-making regarding screening programs do not incorporate all the issues relevant to expanded carrier screening. Further, there is a lack of consistent guidance in the literature regarding the development of appropriate criteria for government assessment of expanded carrier screening. Given this, a workshop was held to identify key public policy issues related to preconception expanded carrier screening, which governments should consider when deciding whether to publicly fund such programs. METHODS: In June 2015, a satellite workshop was held at the European Society of Human Genetics Conference. It was structured around two design features: (1) the provision of information from a range of perspectives and (2) small group deliberations on the key issues that governments need to consider and the benefits, risks, and challenges of implementing publicly funded whole-population preconception carrier screening. RESULTS: Forty-one international experts attended the workshop. The deliberations centered primarily on the conditions to be tested and the elements of the screening program itself. Participants expected only severe conditions to be screened but were concerned about the lack of a consensus definition of "severe." Issues raised regarding the screening program included the purpose, benefits, harms, target population, program acceptability, components of a program, and economic evaluation. Participants also made arguments for consideration of the accuracy of screening tests. CONCLUSION: A wide range of issues require careful consideration by governments that want to assess expanded carrier screening. Traditional criteria for government decision-making regarding screening programs are not a "best fit" for expanded carrier screening and new models of decision-making with appropriate criteria are required. There is a need to define what a "severe" condition is, to build evidence regarding the reliability and accuracy of screening tests, to consider the equitable availability and downstream effects on and costs of follow-up interventions for those identified as carriers, and to explore the ways in which the components of a screening program would be impacted by unique features of expanded carrier screening.

3-Dimensional Facial Analysis-Facing Precision Public Health.

Precision public health is a new field driven by technological advances that enable more precise descriptions and analyses of individuals and population groups, with a view to improving the overall health of populations. This promises to lead to more precise clinical and public health practices, across the continuum of prevention, screening, diagnosis, and treatment. A phenotype is the set of observable characteristics of an individual resulting from the interaction of a genotype with the environment. Precision (deep) phenotyping applies innovative technologies to exhaustively and more precisely examine the discrete components of a phenotype and goes beyond the information usually included in medical charts. This form of phenotyping is a critical component of more precise diagnostic capability and 3-dimensional facial analysis (3DFA) is a key technological enabler in this domain. In this paper, we examine the potential of 3DFA as a public health tool, by viewing it against the 10 essential public health services of the "public health wheel," developed by the US Centers for Disease Control. This provides an illustrative framework to gage current and emergent applications of genomic technologies for implementing precision public health.

Communicating familial hypercholesterolemia genetic information within families.

OBJECTIVES: To explore the views of the Western Australian community on cascade screening for familial hypercholesterolemia (FH), focusing on the desire of relatives to be informed about a familial risk, the acceptability of being informed by family or by health professionals, and preferences around how this information is shared. METHODS: A cross-sectional computer assisted telephone interviewing (CATI) survey was employed, and 430 respondents were recruited randomly from the electronic version of the Western Australian telephone directory. RESULTS: Interviews were conducted in June 2008 and had a response rate of 75%. Most respondents (93%) indicated a desire to be informed about their familial risk of FH. Of these, 91% desired to be informed by their relative, 77% by the health clinic involved in the FH screening program, and 95% indicated a desire to be offered screening for the condition. Women aged 18-54 years were more likely to report a preference for being informed by their relative. The odds of reporting a high likelihood of attending the program health clinic for testing were significantly lower among men aged 18-54 years. If contacted by the program health clinic, 1 in 3 respondents found it unacceptable to not be told their relative's name. CONCLUSIONS: This study provides evidence of community support for FH cascade screening programs that adopt a policy of "direct contact," where program staff contact the relatives of the index cases and inform them of their familial risk. Maximizing community support for the screening program may require that index cases give consent to include their personal details when the initial contact is made with their relatives. It may also require special consideration of how younger members of the community are contacted and encouraged to participate in the screening programs.