Title: Direct to consumer genetic and genomic testing with associated implications for advanced nursing practice

Abstract

Direct-to-consumer genetic and genomic testing (DTCGT) has paved the way for consumers to gain information about their genetic makeup. Consumers may seek DTCGT to estimate ethnic background, identify genetic relations, or obtain raw DNA information that can be used for other purposes, such as testing for paternity and identifying genetically linked illnesses. Despite robust progress in genetic and genomic testing, most people have a low exposure threshold to DTCGT. Patient consumers may unnecessarily experience anxiety if they do not have a health care provider (HCP) to consult and review their results. Presently, there is a knowledge gap in how accurately HCPs can interpret and communicate genetic test results to patients compared with genetic specialists who may be inaccessible to underserved populations. Genetic and genomic information is rapidly progressing in health care and can identify patients at increased risk for certain diseases and improve patient care and outcomes. Appropriate use of genetic and genomic testing and knowing the limitations and difficulties of current testing available are integral to the success of HCPs in using these results in health promotion and improving quality of life. Health care providers should be aware of DTCGT recommendations and implications for patients, be prepared to counsel patients who present with testing results in hand, seeking advisement, and be competent in determining the need for further diagnostic testing or referral to a specialist genetic counselor.

Biography

Dr. Ashley Kate Hughes has been an employee of the Department of Veterans Affairs for over 14 years. Additionally, she selflessly serves as a reservist in the United States Air Force, holding the rank of Major. She has a dynamic background in the nursing field. She has held many nursing positions, including medical-surgical nurse, assistant nurse manager, nurse manager, nurse supervisor, nurse practitioner, clinical faculty nurse, academic faculty nurse, and military nurse. Dr. Hughes has experience in inpatient, outpatient, and deployed treatment settings. Her research includes opioids, ethics, genomics, genetics, access to healthcare, employee satisfaction, quality improvements, and program evaluations. Dr. Hughes is an expert Family Nurse Practitioner with outstanding professional organizational involvement at the local, state, and national levels. She drives innovative, visionary leadership, developing nurse practitioner-led inclusive and diverse interprofessional teams to produce impactful quality health care outcomes, particularly for vulnerable and underserved populations.