From personalized to public health genomics
Authors: Greg Gibson, Peter M Visscher
Journal: Genome Medicine (2013)

It is a sign of the times that most of the buzz around genomic medicine has more to do with personalized medicine than public health [1]. Th is is perhaps con sistent with the prevailing economic sentiment in developed countries that benefi ts accruing to the few gradually transfer to the majority. Healthy societies also take steps to ensure that there is equitable distribution of wealth, which should be construed to include much more than fiwellbeing. We can thus ask to what extent genomics can be used to improve the prospects of as many people as possible. For perspective, consider the public health benefi ts that are generally considered to have had the greatest impact globally. Rather than individualized treatments, these are things like access to fresh water, closed sewage systems, better knowledge of hygiene, widespread antibiotic usage, mosquito nets, and education of women. More recently, recording patients’ family medical history, the adoption of electronic medical records, and the trend toward standardization of medical care on the basis of evidence of effi cacy are all set to benefi t a large number of people, at least in developed countries. What are the genomic equivalents? Th e poster child for successful personalized genomics is the case of the Beery twins [2]. Diagnosed early in life with DOPA-responsive dystonia, but incompletely respon sive to dopamine therapy, the discovery of compound heterozygous mutations in their sepiapterin reductase gene led to supplementation with the serotonin precursor 5-hydroxytryptophan, which turned the twins’ lives around. Early adopters of whole-exome sequencing in the context of congenital pediatric defects, including ciliopathies, craniofacial abnormalities, primary immune defi ciencies and developmental delay, report impressive levels of success in identifying causal mutations, bringing peace of mind to parents and in some cases suggesting new medical interventions. And cancer treatment is already being reshaped by the deep sequencing of tumor genomes and transcriptomes, with the objective of identifying the most suitable chemotherapeutic targets in refractory cases [3]. Extraordinary and transformative as these achievements are, it is hard to imagine them directly benefi ting more than a minority - perhaps 5% - of the population. However, we can see fiways in which personal genomics may generalize to public health genomics. (1) Trickle-down genomics. No doubt the most likely development arising from personal genomics will be a gradual expansion of the number of people whose personal genomes become a part of their individualized treatment. Th e next frontier may be genomic risk assessment for adult-onset congenital decline, but we will also see the extension of health benefi ts from probands to family members. In this context, it is worth highlighting a recent report from 23andMe [4] that the discovery of BRCA1 or BRCA2 mutations in 32 people led to the detection of the mutations in 13 of 30 relatives of these people who chose follow-up evaluation, with an overall conversion of initial anxiety into positive outcomes.