Genomics in Health Care

23CHAPTER 1

Genomics in Health Care

Tonya A. Schneidereith and Christine E. Kasper

Since the inception and completion of the Human Genome Project (HGP), the field of genetics has experienced unimaginable growth. The identification of approximately 30,000 human genes, coupled with advancements in molecular techniques, has created an opportunity to delve deep into every part of the human life span. No longer confined to the sciences and health care, discussions on genetics and the role of genes in disease are part of everyday conversation. From television and mainstream media to the grocery store and genetically modified foods, society is deluged with genetic information. The chromosomal locations for known diseases can now be found with the click of a mouse, making information accessible for everyone.

HUMAN GENOME PROJECT

Much of the detailed information now known about human genetics evolved from the HGP. Started in 1990, the HGP was a collaborative research program coordinated through the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) and the Department of Energy (DOE). David Smith directed the program at the DOE, and James Watson and Francis Collins were the first and second directors at NIH, respectively. Although the primary focus of research included gene sequencing and mapping of the human genome, a major contribution of the HGP was the development of large-scale molecular technologies. These contributions, along with the development of computer technologies to handle the enormous amount of sequencing data, have allowed for the continued, rapid advancements in all areas of genetic research.

In April 2003, the full sequence of the human genome was published in Nature. The complexity of the genome highlighted the discovery that only 1% to 2% of bases encode proteins, meaning that the role of 98% of human DNA is unknown. The total number of identified genes that code for proteins is approximately 30,000, fewer than what was originally expected. Some of the other unexpected findings included “the more complex architecture of human proteins compared to their homologs in worms and flies, the profoundly important lessons that could be learned from the human repeat sequences, and the discovery of apparent horizontal transfer from bacterial species” (Collins, 2001, p. 643).

4The HGP also led to the establishment of the ethical, legal, and social implications (ELSI) programs of genetic research. The ELSI programs fund research in four main categories: genomics research; genomic health care; broader societal issues; and legal, regulatory, and public policy. To date, the major impact from ELSI research includes policies related to the conduct of genomics research, mostly involving informed consent. The future role of the ELSI program includes frequent reassessment of research priorities due to this constantly emerging science and protection of researcher autonomy and independence in a field filled with policy implications.

INCREASING GENETIC LITERACY

Educators have recognized the importance of an informed public that is able to understand genetic risk and predisposition. Historically, aspects of genetics were taught in middle/high school and primarily included the basics of Mendelian inheritance. None of the complexities involved in disease were taught, leading students to believe that genetics followed only the primary inheritance patterns. The American Society for Human Genetics recognized these limitations and suggested a curriculum for K-12 education, increasingly focused on improving genetic literacy.

In today’s health care, there is an expectation that providers are capable of understanding and translating findings from genetic screening and testing into language that is easily understood. This requires incorporation and comprehension of genetic content in both undergraduate and graduate education that is commensurate with the rapidly expanding gains toward understanding genetic risk and predisposition.

Knowledge and Competencies

Many of the challenges and applications of new genetic information are still unknown, but health professionals in all areas of practice will encounter clients with disorders that have either a known genetic etiology or genetic component. Preparation of the provider will aid in recognition of the role of genomics in many conditions and the application of gene-based diagnostic tests and therapies. This includes a breadth of genetic and genomic knowledge regarding testing and assessment of risk, as well as the ability to interpret results and provide education and counseling.

However, staying current with genetic and genomic knowledge is, in itself, a seemingly insurmountable challenge for educators. A study of over 7,700 practicing nurses revealed knowledge deficits in genetics and genomics, while more than 50% of the group identified genetics in their curriculum (Calzone, Jenkins, Culp, Caskey, & Badzek, 2014). This suggests an inadequacy in genetic curricula and inappropriate academic preparation for both students and educators. Making academic preparation a priority is essential for future nurses.

The NHGRI and the National Cancer Institute (NCI) collaborated on a series of articles to help nurse educators focus on genetics and genomics (Mjoseth, 2012). Additionally, in 2006, an esteemed consensus panel comprising nurses from national organizations (NHGRI, American Nurses Association [ANA], Centers for Disease Control and Prevention [CDC], Health Resources and Services Administration 5[HRSA], American Nurses Credentialing Center [ANCC], Sigma Theta Tau International, etc.), universities, and nurses’ associations (Society of Pediatric Nurses, National Association of Hispanic Nurses, National Alaska Native American Indian Nurses Association, etc.) established essential competencies and curriculum guidelines. These guidelines were updated to include outcome indicators in the second edition, published in 2009 as the Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators (Jenkins, 2008). This document identifies essential competencies including:

Professional responsibilities