Cystic fibrosis in the era of effective treatment: Informing targeted therapy and influencing reproductive decision-making
Divining progression in Parkinson disease with a blood test
- Psychology, MedicineNeurology
There is compelling evidence for the utility of a neurofilament light chain (NfL) blood test in predicting progression in Parkinson disease (PD) and in distinguishing PD from multisystem atrophy (MSA).
Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease
- MedicineJournal of Genetic Counseling
The opinions of a unique and extremely well-informed cohort are presented on issues that need to be taken into careful consideration by genetic counselors and other medical professionals who are developing genetic testing protocols, making decisions about the availability of genetic tests, andMaking decisions about whether and how to return incidental findings.
The highly anxious individual presenting for Huntington disease-predictive genetic testing: the psychiatrist's role in assessment and counseling.
- PsychologyHandbook of clinical neurology
Incidental findings of uncertain significance: To know or not to know - that is not the question
- PhilosophyBMC medical ethics
How the various arguments for and against a right not to know hold for IFUS is investigated, which shows that both sides in the debate have exaggerated the importance of incidental findings.
Revised Model of Informed Consent
The fourth chapter explains the revised model by aligning the three distinguishing characteristics of PGT with the three widely recognized components in the current model. The practice of the current…
Suicidal behavior and assisted suicide in dementia
- Psychology, MedicineInternational Psychogeriatrics
Although dementia might not confer a significant overall risk for suicidal behavior, clinicians still need to consider the potential for suicide in vulnerable individuals particularly early in the dementia course.
The “Right Not to Know” in the Genomic Era: Time to Break From Tradition?
- BiologyThe American journal of bioethics : AJOB
The introduction of large-scale sequencing in the clinical setting prompts us to consider the extent to which the right not to know paradigm still holds true, given the dramatically expanded scope and diversity of information that is likely to be generated.
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Predictive testing for Huntington's disease: the calm after the storm
- MedicineThe Lancet
Predictive, pre‐natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000
- MedicineClinical genetics
The objective of this study was to investigate the uptake, utilization, and outcome of predictive, pre‐natal and diagnostic testing in Canada from 1987 to April 1, 2000, and to determine the rate of testing in recent years.
Presymptomatic testing in Huntington’s disease and autosomal dominant cerebellar ataxias
Objective: To report a 7-year experience of presymptomatic testing in persons at risk for Huntington disease (HD) and to compare their characteristics and outcomes with those of persons at risk for a…
Guidelines for the molecular genetics predictive test in Huntington's disease
Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium
- MedicineJournal of medical genetics
The introduction and establishment of HD presymptomatic testing shows that this form of predictive medicine for Mendelian disorders can be successfully incorporated into National Health Service structures.