By Paul Billings

from GeneWatch 28-2 | June-Sept 2015


Poverty and malnutrition impact the incidence and care of a variety of conditions, as they intensely modify social conditions. Obviously, in an ideal world, health care advances developed in the first world would also become available rapidly in poorer countries. Circumstances of birth and locale should not determine health or medical care. But they do. As technology advances, it may be possible to not only limit costs of adopting new technologies, but also to increase the rapidity of translation, resulting in improved birth and childhood health, the treatment of infectious diseases, and management of chronic conditions.

In the last issue of GeneWatch, there was an in-depth discussion of genomics in the public health sector. This discussion is intimately intertwined with developing world issues and significant scholarship is at play. In this essay, I have viewed the challenges of this type of development and genomics.

Genomic Public Health

Can genomics as an information input improve or protect the public's "health"? The notion that there is a role for genomics in public health policies and efforts has always been controversial. The health impacts of genes are usually identified in individuals or, as they are inherited, in families. These people (individuals and their families) are usually the beneficiaries of genomic information.  Governments and bureaucrats using genetics - or, more recently, genomics - have historically been the vectors of eugenics, not necessarily providing benefits to health.

Despite this history, states have required or provided genetic testing (or encouraging information about it) in the preconception/premarital, prenatal and newborn settings. The public cost of these programs is justified by the idea that parents will have more information to prevent unnecessary illness or developmental abnormalities in the fetus or newborn, a costly "burden" on society. Premarital and prenatal testing clearly reduces the number of pregnancies with types of genetically variant fetuses that are born. Newborn testing prevents newborn demise or permanent neurological damage in a small number of children with disorders. These examples of public health genomics are currently expanding as the cost of producing the testing information is reduced, the methods are simplified, and the analysis becomes comprehensive.

Recently, as whole exome and genome assessments have become more feasible (with genotyping or sequencing approaches), states have sought to better characterize their citizenry with genomic ancestry testing. A variety of citizenship benefits could be linked to DNA-based proof of origin, but most of the prevalent programs provide such testing in order to plan for overall healthcare costs for their citizens. For instance, there are countries where inherited illness is a common cause of morbidity and mortality across many age groups. Understanding these disease origins and any links to particularly susceptible groups within a population might allow better health care cost management, prevention, or early disease detection.

In imagining how public health genomics might evolve, several factors might be considered:

1. Better, more accurate methods are being developed to assess most or all the DNA in our germlines and in somatically altered tissues. This better data should allow more reliable determinations of mutation and form the basis of better correlations with health outcomes or states.

2.  In order to understand how genes might affect individuals who make up a "public," we will need more than simply accurate analysis of DNA. The next generation of data will have to consider gene-gene modifications or interactions, epigenomic effects, and other systems that might modify the functional impact of DNA variation in specific populations and environments. While the goal might be to define genomic risks to consider and manage, the outcome may be to demonstrate the limitations of genomics in informing public health policies.

3. The challenge facing providers of genomic information now is to show effectiveness and utility in clinical settings and encounters. The requirements for evidence and benefits must be considerably higher when considering adopting genomics as part of a public health policy. Exactly what evidence is needed prior to general adoption seems to me to require an informed democratic oversight process by citizens.

4. If indeed analysis of the genome yields public health benefits, then it is imperative that the conditions and limitations of that advantage be clearly defined and that equitable access be provided. Put another way, if a society is going to invest in genomics to improve public health, and evidence exists that it should be effective, then a fully equitable non-discriminatory distribution of the knowledge and benefit should be the policy imperative.

Modern genomics will illuminate many aspects of the experience of individuals and families. It may play some role for specific groups that make up our diverse publics. Income inequality, malnutrition, educational opportunity, infection control, and simple hygiene measures may still be the most important targets and programs for public health, particularly as technology seeks translation into the developing world. A limited and realistic role for genomic information in public health considerations, with the intent of appropriately improving global health across geographic, cultural and economic disparities, should be hoped for.


Paul R Billings, MD, PhD, is Executive-in-Residence at Janssen Diagnostics, Inc. and a Council for Responsible Genetics Board Member.


Search: GeneWatch
The use of forensic DNA databases by law enforcement around the globe is expanding at a rate that should be of great concern to civil libertarians.
View Project
CRG has investigated and reported on the commercial claims made about genetically modified crops and transgenic animals introduced into the food supply.
View Project