Genetics and primary care: where are we headed?

Abstract

Since first sequencing the human genome in 2003, emerging genetic/genomic technologies have ushered in a revolutionary era of medicine that purports to bridge molecular biology and clinical care. The field of translational medicine is charged with mediating this revolution. Sequencing innovations are far outpacing guidelines intended to ease their practice-based applications, including in primary care. As a result, genomic medicine’s full integration in primary care settings especially, has been slow to materialize. Researchers and clinicians alike face substantial challenges in navigating contentious ethical issues raised in translation and implementation, namely preserving the spirit of whole-person approaches to care; maintaining respect for persons and communities; and translating genetic risk into clinical actionability. This commentary therefore explores practical barriers to, and ethical implications of, incorporating genomic technologies in the primary care sector. These ethical challenges are both philosophical and infrastructural. From a primary care perspective, the commentary further reviews the ethical, legal and social implications of the Center for Disease Control’s proposed model for assessing the validity and utility of genomic testing and family health history applications. Lastly, the authors provide recommendations for future translational initiatives that aim to maximize the capacities of genomic medicine, without compromising primary care philosophies and foundations of practice.

Physician Communication of Genomic Results in a Diagnostic Odyssey Case Series

“…The potential for genetic and genomic technologies to be used to improve health outcomes is substantial, but it is also dependent on appropriate translation into medical practice. 8,26,33,34 This is especially relevant in the field of pediatrics because genetic disorders are common in this population and contribute to a sizeable proportion of admitted cases in inpatient pediatrics units. 35,36 Given the highly specialized and complex nature of genetic and genomic data, particularly in these types of cases, communication with patients about these data are often challenging, and results may be difficult for patients and families to understand.…”

“…37 There have been several attempts to understand barriers to productive physician-patient interactions about genomic information. Whether in commentaries, 4,8,11,12,24,26,40,42 systematic reviews, 10, 17 surveys, 7,9,43 qualitative work, 18, 25, 44 -49 or essays, 23,50 previous work has largely been focused on the perspectives of physicians, 4, 7 -10, 12, 17, 18, 23 -25 patients, 43,44 or parents 45,46,48,49 but rarely on the perspectives of 2 or more of these groups simultaneously. 47, 50 -52 In practice, however, the sharing of genetic test results occurs within the context of a clinical interaction between physicians and patients or between physicians, patients, and parents.…”

Science, research and technology in primary health care: Covering from neglected tropical diseases to personalized medicine

“…This revolution leads to the advances in computing power and database storage, developing and cost reduction in overall genome and exome sequencing have made genome-based treatment a clinical setting reality within the next couple of years. 4 …”

Implementing genetic education in primary care: the Gen-Equip programme

“…Primary healthcare professionals face substantial challenges in utilizing genetic information, namely translating genetic risk into clinical action (Christensen et al, 2016). It is unsurprising therefore that full integration of genomic medicine in primary care settings has been slow to materialise (Rahimzadeh & Bartlett, 2014).…”