If ever there were an area of science and technology that is appropriate for lifelong learning, it is genomics, the study of the functions and interactions of all the genetic material (DNA) belonging to an organism – including interactions with environmental factors – aimed at identifying the root causes of disease and to better understand how an organism works.

Advances in genome research in the last 20 years have revolutionized knowledge of the role of inheritance in health and disease. It is now known that DNA and RNA determine not only the cause of single-gene disorders, which affect millions of people worldwide, but also predispositions (“susceptibilities”) which are based on new technologies which allow researchers to examine genetic mutations at the functional genomic unit level. As a result, the significance of environmental factors such as chemical agents, nutrition or personal behavior in relation to the causation of diseases like cardiovascular diseases, allergies, cancer, psychiatric disorders or infectious diseases are becoming better understood. (See: Current state of genomics 2015)

These rapid advances in genomics and accompanying technologies are triggering a shift in the comprehension of health and disease as well as in the understanding of new approaches to prevention and therapy. This emerging knowledge also opens a window of opportunity for other disciples such as law and ethics to develop a normative framework even while the science of genomics is being widely applied.

Because it is a young and quickly evolving field, it is difficult to precisely determine either the extent of genomic knowledge, or the clinical application of that knowledge, that will be required for healthcare providers in the future. Indeed, the integration of genomics into evidence-based public health research, policy and practice is one of the major challenges to the transformation of health care in the future, both at the individual and population levels.

Turning that effort into reality, however, will not be easy. Translational genomic research is moving its mission “into the public square” both literally and symbolically. As they approach a wider variety of public and private institutions for DNA samples and clinical information, genomic researchers will find both ordinary people and professionals with non-research interests in their path: patients, community members, clinicians, public health officials, entrepreneurs, and policy makers. Making progress will mean more than simply “taking the public’s pulse” from the vantage point of a genomic soap-box and trying to convert or skirt the crowd. Rather, it will mean negotiating workable relationships with all these stakeholders, and living by those policies which they, working together, have forged.

Genomic science and associated technologies are facilitating an unprecedented rate of discovery of novel insights into the relationship between human genetic variation and health.

Advances in genome research in the last 20 years have revolutionized knowledge of the role of inheritance in health and disease. It is now known that DNA and RNA determine not only the cause of single-gene disorders, which affect millions of people worldwide, but also predispositions (“susceptibilities”) which are based on new technologies which allow researchers to examine genetic mutations at the functional genomic unit level. As a result, the significance of environmental factors such as chemical agents, nutrition or personal behavior in relation to the causation of diseases like cardiovascular diseases, allergies, cancer, psychiatric disorders or infectious diseases are becoming better understood.

These rapid advances in genomics and accompanying technologies are triggering a shift in the comprehension of health and disease as well as in the understanding of new approaches to prevention and therapy. This emerging knowledge also opens a window of opportunity for other disciples such as law and ethics to develop a normative framework even while the science of genomics is being widely applied.

Many issues and a host of questions arise when genomic knowledge is translated to the timely and responsible practice of medicine and public health. Indeed these questions, and many more, lie at the heart of the complex and varied issues associated with the future of genomics research and its potential impact on individuals and society:

• What are the technologies by which medicine of the future will manage an individual’s personal health instead of managing a patient’s disease? (Genomic Medicine)

• Will our current health care system of balancing risks and benefits to patients fail if we have genomic data (of still imperfect quality) about how patients are likely to respond to different therapies?

• Will genomics lead to a single payer system because of challenges in maintaining privacy and difficulties of insurance companies in determining which individuals to insure at what rates?

• Will genomic knowledge result in unbelievable advances in health care but widen the health disparities among groups who have persistently experienced historical trauma, social disadvantage or discrimination, and systematically worse health or greater health risks than more advantaged social groups? (Scientific Racism)

• Who gets access to the new genomic technologies?

• Are new emerging genomic reproductive technologies paving the way to a “new eugenics?”

• Should universal carrier screening become a routine part of medical care?

• What psychological toll might there be to discovering you are at risk for certain diseases like Alzheimer’s? Do you even want this information?  (Predicting Genomic Future)

• What do genes tell us about ourselves, and about our potential children? How much is clear, how much is uncertain, and how do we know the difference?

• Genomic knowledge is generated by research paid for by tax dollars, but does that mean that companies should be allowed to provide it directly to consumers, with no medical personnel acting as a filter?

• Many experts are advocating that all newborns have a complete genome analysis done so that preventive measures and preemptive medicine can begin early in life. How will his astonishing achievement play out in our lives? Will our privacy be protected? Will we be pressured, by insurance companies or by our employer, to get our genome sequenced? And will the government or the medical establishment come between you and your genome? (BioHealth)

• How will research currently underway on the Human Microbiome Project (an international effort to catalogue the 1 quadrillion microbial cells that live in and on our bodies) alter our conceptions of health and disease and ultimately determine the kinds of policies that will be needed to regulate the use of products (e.g., probiotics and drugs) generated by this research?

• How will the emerging science of epigenomics allow us to create policies designed to specifically address the decreased life span, non-alcohol-induced fatty liver disease, increased cardiovascular disease, increased incidence of stroke and type 2 diabetes currently estimated to affect over 65 million adult Americans suffering from morbid obesity? (Epigenomics)

• How can policy makers, the public, and technical experts engage with one another as partners to create responsible and effective upstream genome policy in the common good? (Making Policy)

Genomic discoveries in the future will increasingly advance the science of medicine. Preparing health care practitioners, and their patients, for that time in which the use of genetic and genomic information will become a routine part of medical care, is critical. Limited “genomic literacy”—sufficient knowledge and appreciation of genetics principles to allow informed decision-making for personal well being and effective participation in social decisions on genetics issues—may adversely impact the use of the power of genetics and genomics in health care and public health. (Genomics Literacy)

As the genomic age becomes a concrete realization, more needs to be done to ensure that the current public health workforce—and their patients—will be prepared to meet the need for delivering and interpreting genetic and genomic information.

At the present time, only about 10 percent of U.S. adults have “proficient” skills; sufficient understanding about inheritance and genetics required for understanding consent forms. Genetic conditions are perceived as rare, scary and untreatable and associated with physical malformations or unusual features, all powerful triggers of negative emotions.

Genomic health literacy is becoming an increasingly urgent requirement as the amount and complexity of genomic information continues to expand and spreads to a much wider proportion of the population.

Genetic illiteracy disproportionately affects minorities and those with lower incomes and threatens to worsen health disparities. Health professionals may need to think twice about warning against Internet use and begin helping to make genomic information more easily accessible and understandable so it can be used to improve the population’s health.

The science of genomics is a fantastic gift to humankind if used wisely. But the greatest gifts can be the most socially and ethically abused. The best protection against that kind of outcome remains awareness, vigilance, and an educated electorate and policy makers working collaboratively to create well-informed evidence-based policy, aimed at educating both clinicians and patients to become well versed in both the social power and the ethical pitfalls of genomic information.

Together with the need for enlightened policy development in the common good, there are significant bottlenecks to the realization of the “genomic revolution” posed by genomic science, itself, many of which were first identified at the official end of the human genome project in 2003. (See: Bottlenecks and Challenges)

For example,

• Understanding how DNA regulates itself will be an important step toward resolving this mystery and gaining more control over gene functions;
• Understanding how our unique combination of genetic variations—and their role in human disease and development—will be crucial in turning genomic promises into reality; (See: Pharmacogenomics)
• Unraveling the source of the key variants which cause common disorders such as diabetes, cancer, and cardiovascular disease, and have so far eluded scientific efforts of unambiguous association;
• The ability to routinely scan an individual’s entire genome for less than $1,000 and covered by medical insurance;
• Develop the infrastructure and analytical technology sufficient to convert     all the data being generated by genomics research into a useful form;
• Seek to understand the influence of genes carried by the wide variety of bacterial species (Microbiome) living in the human gut and other places on the human body and the role they play in our health;

Together this information will offer unprecedented insights into the fundamental biological nature of ourselves and our species: where we came from, how we begin our lives, how we develop and grow, how we interact with our environment, how we get sick, how we get well, and how we age (and how we might turn back the clock).

There is little doubt that genomics research occurring now will alter our future forever. The technology is evolving at breakneck speed, our medical system is shifting, social systems are evolving, and there is little doubt that our bodies will soon follow suit.

The future is a blank page waiting for each of us to fill it. What will yours look like? (See: Techno-Future and Future Humans)