J Adv Nurs 2014 Dec 1;70(12):2736-45. Epub 2014 Sep 1.
Division of Human Genetics, Department of Pediatrics, Department of Patient Services, Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Aims: A discussion of whole exome sequencing and the type of possible results patients and families should be aware of before samples are obtained.
Background: To find the genetic cause of a rare disorder, whole exome sequencing analyses all known and suspected human genes from a single sample. Over 20,000 detected DNA variants in each individual exome must be considered as possibly causing disease or disregarded as not relevant to the person's disease. In the process, unexpected gene variants associated with known diseases unrelated to the primary purpose of the test may be incidentally discovered. Because family members' DNA samples are often needed, gene variants associated with known genetic diseases or predispositions for diseases can also be discovered in their samples.
Design: Discussion paper.
Data Sources: PubMed 2009-2013, list of references in retrieved articles, Google Scholar.
Implications For Nursing: Nurses need a general understanding of the scope of potential genomic information that may be revealed with whole exome sequencing to provide support and guidance to individuals and families during their decision-making process, while waiting for results and after disclosure. Nurse scientists who want to use whole exome sequencing in their study design and methods must decide early in study development if they will return primary whole exome sequencing research results and if they will give research participants choices about learning incidental research results.
Conclusion: It is critical that nurses translate their knowledge about whole exome sequencing into their patient education and patient advocacy roles and relevant programmes of research.