Cynthia A. Prows

Gaucher disease: Enzyme therapy in the acute neuronopathic variant

The responses to regular intravenous enzyme infusions were compared in two sibs with Gaucher disease type 2, the acute neuronopathic variant. Enzyme administration was begun at 7 months in patient 1 who had severe progressive visceral and neuronopathic disease. No significant effect of enzyme infusions was noted. Death occurred at 9 months. Patient 2 was prenatally diagnosed and enzyme infusions were initiated at age 4 days. Overall development progressed at a rate similar to her unaffected full sib until her death at 15.1 months. Slowly progressive esotropia, ocular paresis and dysphagia began at 8 months as did infiltrative pulmonary disease. Comparison of these clinical courses show significant visceral and neurologic effects of anticipatory enzyme therapy, but with unaltered outcome, for Gaucher disease type 2.

Establishing the Outcome Indicators for the Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics

The translation of genetics/genomics to clinical care has implications for nurses. The Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics, established by consensus, apply to all registered nurses. Learning outcomes and clinical practice indicators have been developed to provide additional guidance. The Essentials Advisory Group (EAG) established a team to establish the Outcome Indicators. A draft was developed based on published peer-reviewed documents and syllabi. The draft underwent three layers of review: (a) critique by the EAG; (b) review by representatives at a Genetics/Genomics Toolkit for Faculty meeting; and (c) review by workshop attendees of the American Association of Colleges of Nursings baccalaureate and masters education conferences, followed by EAGs final approval. Outcome Indicators clarify specific knowledge areas and suggest clinical performance indicators for each competency. They provide the foundation to establish a competency-based education repository with outcome indicator mapping matrixes for genetic/genomic education resources. A gap analysis of education resources identified resource deficits, and online unfolding case studies were developed. Outcome Indicators assist the academic and continuing education nurse community to prepare the nursing workforce in genetics/genomics and provide a platform from which to build tools needed to achieve this goal.

Optimizing Drug Therapy Based on Genetic Differences: Implications for the Clinical Setting

Differences in drug responses due to gene alterations are rapidly being identified. Gene alterations may inhibit the function of an enzyme so that an active drug accumulates, causing adverse reactions with normal doses. Alternatively, gene alterations may accelerate enzymatic function so that an active drug is rapidly eliminated, causing subtherapeutic responses to normal doses. Mutations and polymorphisms have been identified that affect a persons response to many currently prescribed medications including cardiovascular, anti-infective, chemotherapeutic, psychiatric, and analgesic drugs. The potential exists for drug therapy to be optimized by selecting medication and doses based on a persons genotype rather than by trial and error. In the near future, advanced practice nurses in the acute care setting may be expected to order, provide patient education about, and explain results of genetic tests before initiating a specific drug therapy. Advanced practice nurses must be knowledgeable about what genetic tests are analyzing and their benefits, limitations, and risks.

Prader Willi and Angelman syndromes: exemplars of genomic imprinting.

The molecular phenomenon genomic imprinting provides an explanation for why two clinically distinct syndromes share genetic etiologies. Increased understanding of genomic imprinting is affecting diagnostics. Use of improved diagnostic tests can enable early, syndrome-specific, and anticipatory interventions and consequently, improved quality of life; however, these tests are of little use unless clinicians are able to identify at-risk patients. Nurses knowledgeable about Prader Willi and Angelman syndromes and their associated genetic mechanisms can play a significant role in early identification, referral, and intervention of patients with these conditions.

Whole exome or genome sequencing: nurses need to prepare families for the possibilities

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 persons 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.