The advent of clinical genome sequencing to identify patients at risk for serious diseases and to tailor treatments promises to greatly improve health outcomes and provide a foundation for the delivery of Precision Medicine. However, even as laboratory methods to perform sequencing become highly efficient, uncertainty around the optimal breadth and economic value of sequencing as well as ambiguity around which individuals should be tested presents a critical barrier to wider use.
Advances in technology have led to the availability of genetic testing for a wide range of conditions for healthy or high-risk newborns. It is expected that the funds spent on genetic testing in the U.S. will reach $25 billion by 2021. With the numerous uses of genomic information, understanding the clinical value and long-term impact of genomic technologies on morbidity, mortality, quality of life, and diagnosis and treatment costs is essential.
Prenatal genetic services have expanded at an extraordinary pace over the past 4 years with the development of fetal genome sequencing using cell-free placental DNA in maternal serum. Some commentators predict that this new technology, which allows for noninvasive determination of an increasingly wide range of maternal-fetal health conditions, will improve prenatal care, especially in lower-resource areas.
The volume of international research in sub Saharan Africa is increasing largely because of the continents unique high burden of diseases such as malaria, HIV and more recently non-communicable diseases. The continent also faces emerging global health challenges such as Ebola and Zika virus all of which will require testing of new medicines, medical devices or understanding the pathophysiology. Many studies now include complex research such as genetic testing.
Addictive disorders are increasingly conceptualized as biomedical diseases with genetic roots. While conventional wisdom has suggested that attributing addictions to genetics should have many benefits, there is reason to suspect that it could have some unintended, negative consequences. In particular, genetic explanations for addictive disorders could lead to the perception that people with addictions lack agency or self-efficacy to overcome their symptoms and to the belief that non-biomedical treatments, such as psychotherapy, are unlikely to be effective.
Background: There is great interest in the implementation of genomic medicine, i.e., using genomic information to inform patient care. As a result, patients with medically actionable (preventable and/or treatable) genetic conditions are being identified, often as an unsolicited secondary finding or a result of screening in the absence of a clinically known condition. The identification of a previously unsuspected medically actionable condition enhances the ability of health care providers' (HCPs) to intervene early to prevent disease.
In the emerging era of precision medicine, there have been increasing calls for diversity and the inclusion of historically under-represented racial and ethnic populations in biobanking and precision medicine research. Recent findings suggest that the lack of diversity in genetic repositories may pose serious challenges to identify genetic variants that are clinically significant in certain populations. These concerns have been linked to ethical concerns over disparities in health and disease among racial and ethnic groups.
The North Coast Conference on Precision Medicine is a national annual mid-sized conference series held in Cleveland, Ohio. The conference series aims to serve as a venue for the continuing education and exchange of scientific ideas related to the rapidly evolving and highly interdisciplinary landscape that is precision medicine research. The topics for each conference coincide with the national conversation and research agenda set by national research programs focused on precision medicine.
The lack of American Indian and Alaska Native professionals in genomic sciences today highlights the tremendous need for effective training and research programs to prepare the next generation of Native students to be successful in their pursuit of careers in genetics research. Early and meaningful exposure to degree programs and research experiences are critical for the inclusion and advancement of Native students in establishing pathways toward careers in genomics.
Stephanie Kraft, JD, is an Acting Instructor in the Division of Bioethics, Department of Pediatrics, University of Washington School of Medicine. She has a background in law and economics and has completed postdoctoral fellowships in bioethics at the Stanford Center for Biomedical Ethics and the Treuman Katz Center for Pediatric Bioethics at Seattle Children?s Hospital and Research Institute. Her prior work includes mixed methods studies related to informed consent and the ethical, legal, and social implications (ELSI) of genetics and genomics.