Dr Reid-Ponte: Dr Dwyer, what drove you to pursue your current program of research and practice?
Dr Dwyer: Early in my career, I worked as a family nurse practitioner alongside an incredible group of clinician scientists at the Massachusetts General Hospital. I was inspired by their knowledge, expertise, and commitment to understanding rare genetic disorders. Early on, I learned that patients and families wanted more information about their condition. They desired a better understanding of how genetic testing may guide (or may not) decisions about their health and treatment as well as the impact that test results may have on family members. At that time, we had little to offer them in the way of educational programs and decisional support. Ultimately, the patients and families inspired me to work on bridging gaps in care. Later in my career, I worked in Switzerland in an interprofessional team of physicians, nurses, molecular biologists, geneticists, and bioinformaticians researching rare diseases. I recognized that technology was advancing rapidly, but patient perspectives were essentially absent, and we were not responding to patients' needs and preferences. I felt this was an important and emerging field of inquiry. I believed that by engaging and partnering with patients (and families), we could respond to unmet informational needs and cocreate solutions that aligned with what matters most to patients. The goal was to inform and empower individuals to make genetic testing decisions that are in line with preferences and facilitate effective family communication of risk. This idea was the basis for my PhD thesis at the University of Lausanne. We used a community-based participatory research framework to conduct a needs assessment. We leveraged patient partnerships and a web-based approach to reach geographically dispersed rare disease patients. For the next 3 years, I was focused on this work and completing my dissertation and degree. Subsequently, we matched patients with expert clinicians to cocreate educational materials that were tested and translated into 20 languages. In 2017, my family and I returned to Boston to be closer to family and to continue my practice, teaching and research program.
Dr Reid Ponte: Could you describe the concepts in your model of genomic person-centered engagement?
Dr Dwyer: The essence of the model is based in person-centered engagement and using technology (and principles of human-centered design) to support individuals in making high-quality decisions about genetic testing. We aim to create asynchronous interactive environments where patients can learn at their own pace and develop active coping and effective communication skills. I see a critical role for nurses in assuring that patients and the general public are informed and supported in decision making to promote better outcomes. Genetic tests are unique because they implicate family, and so aspects of coping and communication are important.
Dr Reid-Ponte: Could you describe a challenge facing healthcare organizations and the public related to your program of research?
Dr Dwyer: This is an exciting time. The genomic era holds so much promise for improving diagnosis and treatments. Genetic testing is no longer the domain of specialty clinics, it is in primary care. If you think about examples from oncology, we are really making significant advances towards personalized, precision medicine. Technologic advances are exciting, but to harness the full potential of these advances, we need to ensure patients and families are not left behind. My current project builds on existing patient partnerships and uses technology to extend the reach of nursing care by providing virtual decisional support for genetic testing decisions and supporting active coping and effective family communication of risk.
Dr Reid-Ponte: Could you describe how the roles of genetic counselors and registered nurses (RNs) relate in this context?
Dr Dwyer: Genetic counselors are critical for genetic healthcare. Genetic counselors are educated at the master's level and are highly skilled and in genetics and counseling. I have learned so much from my genetic counseling colleagues. Like nurses, genetic counselors' approach is truly patient centered. Outside of the US, many genetic counselors are RNs. The major issue in the US is that there simply are not enough trained genetic counselors to do meet the needs for genetic healthcare. I believe nurses can play an important and complementary role for expanding access to genetic healthcare and bridging genetic health disparities.
Dr Reid-Ponte: Could you talk about how nurse educators and nurse executives could work toward assuring that RNs gain these competencies that will be at the forefront of personalized care?
Dr Dwyer: The American Nurses Association (ANA) and International Society of Nurses in Genetics (ISONG) have developed scope and standards for proactive genetics/genomics nursing. Importantly, the least expensive genetic test we have is taking a 3-generation family history! We could make a huge difference if nurses developed competencies for 3 things: eliciting a 3-generation family history, using it to identify clients who may benefit from genetic services, and providing appropriate information, referral, and support to patients and families. I am involved with the Global Genomic Nursing Alliance (G2NA) that is working to develop these competencies for nurses at all levels of practice around the globe (http://www.g2na.org).
Dr Reid-Ponte: What would you like JONA readers to know that they may not already know?
Dr Dwyer: Genomic era is here; genetic testing is increasingly used in primary care and direct to consumer testing is bringing genetics into people's homes. While the lay public may be familiar with the terminology, people often lack an understanding of the concepts, which limits decision making. The public expects healthcare professionals to assist in understanding. I believe nurses can make a huge difference in helping people to fully understand their choices, to assess risk and to understand health implications to support decisions that reflect patients' beliefs and preferences. I am very optimistic and excited about the prospects of using technology (eg, human-centered design) alongside nursing knowledge, skills, and attitudes to develop solutions that are desirable from a human standpoint, feasible from a technologic point of view and viable (and scalable) from a business and health finance perspective.