Abstract
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.
Highlights
Rare diseases (RD) are increasingly recognized nationally [1] and globally as a public health priority [2, 3]
The technological innovations enabling 3-dimensional facial analysis (3DFA) include advances in imaging hardware, analytical techniques, and the combination with other, e.g., text-based, advances. Approaches such as 3DFA, and other forms of deep phenotyping, mean that RD are providing a fruitful domain for precision approaches to medicine and public health
A pragmatic, but potentially imprecise, approach using African-American facial standards has been implemented for fetal alcohol syndrome (FAS) diagnosis
Summary
Rare diseases (RD) are increasingly recognized nationally [1] and globally as a public health priority [2, 3]. The technological innovations enabling 3DFA include advances in imaging hardware, analytical techniques, and the combination with other, e.g., text-based, advances Approaches such as 3DFA, and other forms of deep phenotyping, mean that RD are providing a fruitful domain for precision approaches to medicine and public health. A pragmatic, but potentially imprecise, approach using African-American facial standards has been implemented for FAS diagnosis Should these be unfit for purpose, epidemiological, and diagnostic data may be inaccurate with implications for targeted health and prevention strategies. Improved diagnostic certainty through the precision of 3DFA provides novel opportunities to evaluate health care, for instance, in assessing the diagnostic programs for rare genetic diseases through direct and objective comparison of facial phenotypic and molecular diagnostic approaches. It needs to be extended to the full set and be further validated by human experts
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