Technology to Watch: Genome Sequencing

Technology to Watch: Genome Sequencing

As healthcare becomes increasingly more complex, nurses must maintain the competencies necessary to deliver high-quality care. This includes the ability to respond appropriately to new technologies, which may have the potential to change nursing practice and/or nursing education. As patient advocates and frontline caregivers, nurses must ensure that new technologies support and enhance the human element in healthcare.

The science of genomics deals with the ways in which genes interact with each other and various environmental, psychosocial, and cultural factors. These multi-faceted genomic variations contribute to health and, according to the CDC, play a role in nine of the ten leading causes of death in the U.S. (accidents are the sole exception). This is different from the science of genetics, which studies the individual genes that cause single-gene, inherited health disorders. Our expanded understanding of genomics is translated into medical practice every day, in terms of screening, diagnosis, and treatments. For example, genome sequencing of tumors can already identify which treatment a cancer patient is most likely to respond to.

The future of genomic medicine depends on our ability to sequence an individual’s entire genome quickly, accurately, and cost effectively—which in turn depends upon next-generation sequencing technologies. Consider this: the Human Genome Project spent 15 years and $2.7 billion to sequence the first human genome, published in its entirety in 2003. The goal was to bring that cost down to $1,000, and while today’s state-of-the-art sequencers claim to do that in theory, the true price tag is much higher (equipment costs are about $10 million). Scientists believe they will need to sequence hundreds of thousands of people to be able to compare genomic variations in meaningful ways, in order to develop personalized therapies. Lower costs and better technologies can enable the huge sequencing studies that are needed. If this sounds like science fiction, it’s not: In the U.K., the government is currently undertaking a project to sequence the genomes of 100,000 patients and integrate that data into medical care.

As with any new area of medical research and treatment, there are major considerations. The use of whole-genome sequencing for clinical purposes is still limited, and it isn’t yet clear how sequencing will affect the majority of patients in terms of beneficial outcomes. For this reason, insurers (including Medicare) do not yet cover whole genome sequencing. Physicians will have to receive training about the clinical impact of specific genomic data and will have to learn how to deliver results. Electronic record systems will have to be adapted to incorporate genomic data, and there may be new privacy concerns to address.

So why should nurses care about genome sequencing technology? As an article in American Nurse Today points out, the public is already dabbling in direct-to-consumer genetic testing. At some point, the true cost of genome sequencing will fall within the realm of possibility for consumers and clinical laboratories, and it will go mainstream. Nurses will be part of that transformation—they will have to understand the implications of genomic science for their practice and for society as a whole. The ANA has already called for nurses to develop an understanding of genetics/genomics in medicine as an essential competency, so they can help patients manage genomic information as it applies to their health status or understanding of a disease process or treatment. Additional nursing competencies related to genomics might include:

  • Assessing a patient’s knowledge of genetic/genomic information and participating in patient education.
  • Delivering genomic health or treatment information to a diverse patient population in appropriate ways, based on ethnicity, culture, religion, health literacy, and language.
  • Demonstrating the ability to collect relevant family history data.
  • Understanding and addressing ethical challenges in genomic medicine.
  • Working collaboratively with other members of the care team in providing personalized, genomic treatments.

Nursing’s patient advocacy role will come into play if genomic-based treatments become common. While nurses are not legally responsible for obtaining informed consent, the ANA maintains that nurses have an ethical obligation to speak up if they believe patients are not acting autonomously, are being coerced, or don’t understand the implications of their medical decisions—not only when it comes to treatment, but regarding participation in research studies as well. And of course, nurse leaders and educators will have to prepare for all of the challenges associated with a new area of medicine, in order to assure that nurses have the competencies they need. The profession as a whole should be proactive, rather than reactive, when it comes to addressing the future of nursing.

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