National Society of Genetic Counselors Code of Ethics: Explication of 2017 Revisions

Senter, Leigha; Bennett, Robin L.; Madeo, Anne C.; Noblin, Sarah; Ormond, Kelly E.; Schneider, Kami Wolfe; Swan, Kelli; Virani, Alice

doi:10.1007/s10897-017-0165-9

Cited by 9 publications

(1 citation statement)

References 2 publications

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“…Before implementing the DES and CMA, we minimized possible ethical issues by referring to a genetic counseling specialist. Moreover, we must consider the ethical responsibilities in genetic counseling [ 21 ]. Throughout all of the above-mentioned processes, we tried to ensure that the patient and his parents are minimally psychologically, socially, and economically burdened based on the ethical principles of genetic counseling.…”

Section: Discussionmentioning

confidence: 99%

Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report

Park

Shim

et al. 2021

Children

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Duchenne muscular dystrophy is a progressive and lethal X-linked recessive neuromuscular disease caused by mutations in the dystrophin gene. It has a high rate of diagnostic delay; early diagnosis and treatment are often not possible due to delayed recognition of muscle weakness and lack of effective treatments. Current treatments based on genetic therapy can improve clinical results, but treatment must begin as early as possible before significant muscle damage. Therefore, early diagnosis and rehabilitation of Duchenne muscular dystrophy are needed before symptom aggravation. Creatine kinase is a diagnostic marker of neuromuscular disorders. Herein, the authors report a case of an infant patient with Duchenne muscular dystrophy with a highly elevated creatine kinase level but no obvious symptoms of muscle weakness. The patient was diagnosed with Duchenne muscular dystrophy via next-generation sequencing and chromosomal microarray analysis to identify possible inherited metabolic and neuromuscular diseases related to profound hyperCKemia. The patient is enrolled in a rehabilitation program and awaits the approval of the genetic treatment in Korea. This is the first report of an infantile presymptomatic Duchenne muscular dystrophy diagnosis using next-generation sequencing and chromosomal microarray analysis.

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Section: Discussionmentioning

confidence: 99%

Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report

Park

Shim

et al. 2021

Children

View full text Add to dashboard Cite

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Development of the Genetic Counseling Profession

Baty

2020

Genetic Counseling Practice

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Genetic counseling: Growth of the profession and the professional

Baty

2018

American J of Med Genetics Pt C

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Growth of the profession of genetic counseling has gone hand-in-hand with professional development of individual genetic counselors. Genetic counseling has achieved most of the typical early milestones in the development of a profession. The profession is maturing at a time when the number of practitioners is predicted to vastly expand. The last two decades have seen a proliferation of genetic counselor roles and practice areas, and a distinct professional identity. It is likely that the next two decades will see an increase in educational paths, practice areas, and possibilities for professional advancement. How this maturation proceeds will be impacted by overall trends in healthcare, decisions made by international genetic counseling organizations, and thousands of individual decisions about career trajectories.

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National Society of Genetic Counselors Code of Ethics: Explication of 2017 Revisions

Cited by 9 publications

References 2 publications

Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report

Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report

Development of the Genetic Counseling Profession

Genetic counseling: Growth of the profession and the professional

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