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Tailored genes

Rapid advances and plummeting costs of gene sequencing offer new ways to prevent and solve health issues

Monday August 19, 2013
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Genetics is the study of genes and their role in transmitting traits from one generation to the next. But genomics encompasses the whole collection of an individualís genes — the genome — and the interaction of those genes with one another and with environmental factors. A genomics-based approach to healthcare is critical for understanding complex conditions, such as diabetes and heart disease, in which multiple genes and environmental factors come into play.

At the same time the cost of deciphering a personís genome has plummeted to about $1,000, the potentially lifesaving benefits of such testing have come to light. Actress Angelina Jolie recently drew worldwide attention to the science when she underwent a prophylactic mastectomy, hysterectomy and oophorectomy based on testing positive for a defect in the BRCA1 gene.

The effect of a single gene on a person can be straightforward. But human genomics tracks more than 20,000 genes that interact with one another and with other factors within the body. When diet, lifestyle and environmental conditions are added to the equation, it becomes quite complicated to determine an individual patientís best course for good health. Instead of one-size-fits-all healthcare, "you can begin to do the science and translate it into practice," said Kathleen Calzone, RN, PhD, APNG, FAAN, senior nurse specialist (research) at the National Cancer Institute in Bethesda, Md.

However, questions remain unanswered, said Suzanne Tracey Zamerowski, RN, PhD, associate professor at Villanova (Pa.) University, such as whether healthcare infrastructures are up to the task of fully utilizing information provided by genomics testing in clinics and at the bedside. The level of patient trust in genomics findings also remains to be seen, she said. "Youíre imposing all this on people — do they really want to know?"

Sometimes genomics testing can reveal incidental findings, such as that someone thought to be a childís biological parent is not, or that a patient is predisposed to develop a disease such as Alzheimerís. "But the reality in healthcare is weíve dealt with incidental findings forever, [such as] a CT scan for something else that shows a tumor in the lung," Calzone said. "The question is what is important for people to know, and what is the threshold for clinical significance?"

Genomics affects virtually every area of nursing, especially when it comes to front-end patient evaluations. Risk assessment is moving beyond broad population generalizations to focus in on individual genotypes. In oncology, molecular profiling of tumors is more frequently providing information on patient prognosis and influencing therapeutic decision-making, Calzone said. In geriatrics, genomics research offers the promise of advances, such as better calculation of warfarin doses. Perioperative nurses can benefit from understanding the genomics behind malignant hyperthermia or for patients who donít respond to morphine-based pain medicines, for example.

Without crucial genomics information, "we can give the wrong treatment for a prolonged period of time, and that could make a condition advance to an untreatable stage," said Pamela S. Hinds, RN, PhD, FAAN, director of the Department of Nursing Research and Quality Outcomes at Childrenís National Medical Center in Washington, D.C. "Or we could give a treatment with side effects for a long time with no benefit."

Knowledge into action

Many healthcare providers do not yet understand genomics well enough to see how it applies to their practices, Calzone said. "If you canít recognize itís relevant to you, youíre not even going to try to understand it."

A consensus panel published a set of competencies outlining what nurses need to know about genetics and genomics (see resources below story). Updated in 2009, the more than two dozen competencies range from understanding how personal attitudes about genetics and genomics affect patient care to collecting, organizing and analyzing three generations of family health history.

While these competencies are useful for practicing RNs, the standards for genetics and genomics practice developed by the International Society of Nurses in Genetics and the American Nurses Association are crucial to the education of new nurses, Zamerowski said.

"As an academician, I think the most important thing we can do in our curriculum is teach our students how to take a family history, identify susceptibility characteristics for conditions Ö and make appropriate referrals," she said. "Students really need to know what it means to have a condition before the accepted chronological age. If a nurse can recognize that, sheís going to do a lot for her patient."

At Villanovaís nursing school, genomics has been integrated throughout the nursing curriculum, Zamerowski said. Foundations of nursing , for example, offers instruction on taking a family history and drawing and analyzing a pedigree, while obstetrics courses touch on how to identify dysmorphic features suggesting a child has a genetic condition. Med-surg discussions include ways to recognize whether colon cancer is likely hereditary.

To help educate practicing nurses, a project funded by the National Council of State Boards of Nursing is examining how Magnet hospitals can best disseminate genomics information. The two-year project, led by Laurie Badzek, RN, LLM, JD, FAAN, of West Virginia University in Morgantown, enlists a pair of nurses from each participating hospital — one educator and one administrator — to spearhead assessment, training and ongoing education tailored to that facility.

At Akron (Ohio) Childrenís Hospital, Dana Nelson, RN, MN, CNS, administrative director, and Sue Nicholas, RN, MSN, WHNP-BC, nurse practitioner, both in maternal fetal medicine, are leading the charge. Their initial survey found RNs appreciated the potential of genomics but didnít clearly understand how it could be incorporated at the bedside. For example, nurses might recognize a family history of diabetes as a red flag, but not act on that information by providing advice or referrals, Nelson said.

Itís important for nurses to use their understanding of genomics to convey to patients that some factors can be modified. "The secret of genomics is looking at promotion and prevention," Nicholas said. "We can tailor the things we do to the needs of the person — thatís a real positive."

At Akron Childrenís, outreach to nurses has included webinars, lectures, a monthly newsletter called Gene Scene and posters designed for patient education. "Thereís an energy and excitement about it," said Nicholas.

At Childrenís National, Hinds learned from an initial survey that nurses worried patientsí genetic information could be used by third-party payers to deny future care. Also, nurses werenít confident in explaining genomics information to families, but wanted to be. In response, the hospital instituted monthly didactic sessions that cover genomics-based treatments and rounds led by an advanced practice nurse who uses patients to show genetically driven care. "Getting closer to the point of care Ö is making the information come alive," Hinds said.

Nurses must be comfortable raising genomics concerns with physicians and discussing next steps with patients and families, Hinds said. "When we give our best care, itís very interprofessional Ö and thatís how we should be handling genomics and genetics." •

Karen Patterson is a freelance writer.

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Genomics resources

• The Journal of Nursing Scholarshipís March 2013 edition (http://OnlineLibrary.Wiley.com/doi/10.1111/jnu.2013.45.issue-1/issuetoc) is an open-access issue on genetics and genomics in nursing. Related webinars are online at GenomeTV (Genome.gov/HealthProfessionals).

• ďEssentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators,Ē (Genome.gov/Pages/Careers/HealthProfessionalEducation/GeneticsCompetency.pdf) outlines essential competencies for incorporating genetics and genomics knowledge into education and practice.

• The International Society of Nurses in Genetics (ISONG.org) offers resources including a book detailing scope and standards of practice, and has online position statements on topics that include access to genomic healthcare and privacy of genetic information.

• Genome.gov provides information on the Genetic Information Nondiscrimination Act of 2008 (Genome.gov/10002328).

• The article ďNurses Transforming Healthcare Using Genetics and GenomicsĒ
(NCBI.NLM.NIH.gov/pmc/articles/PMC2835985) details the fieldís potential to improve healthcare.

• The Genetics/Genomics Competency Center for Education (G-2-C-2.org) and the National Coalition for Health Professional Education in Genetics (www.NCHPEG.org) offer a wealth of information for nurses and other health professionals.

• The Surgeon Generalís My Family Health Portrait (https://FamilyHistory.HHS.gov/fhh-web/home.action) is a tool to help build a comprehensive family medical history. The American Medical Association also offers tools and guidance (AMA-Assn.org/ama/pub/physician-resources/medical-science/genetics-molecular-medicine/family-history.page) for building family histories.

• The University of Utahís Learn.Genetics site (Learn.Genetics.Utah.edu) covers a variety of topics from the basics to gene therapy, stem cells and epigenetics.