“I'm fine; I'm just waiting for my disease”

Kwon, Jennifer M.; Steiner, Robert D.

doi:10.1212/wnl.0b013e318228c15f

Cited by 41 publications

(28 citation statements)

References 6 publications

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“…Some providers, evoking patients' right to know, advocate full disclosure of incidental findings [6]. Others believe that limited disclosure of only high confidence, validated disease-causing variants is most appropriate [7]. Those advocating more limited, or no disclosure of incidental findings that are outside of the intended purpose of the sequencing test Accepted Article 5 point to the possibility of causing unnecessary anxiety, exposing patients to additional testing and surveillance, and increased medical costs that often accompany disclosure of variants of uncertain significance [8].…”

Section: Though Tumor Sequencing Platforms Vary By Technique Germ-limentioning

confidence: 99%

Patient preferences regarding incidental genomic findings discovered during tumor profiling

Yushak

Han

Bouberhan

et al. 2016

Cancer

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Precis: During the process of tumor profiling, there is potential to detect incidental germ-line variants for hereditary cancer syndromes and other major health issues. Amongst a cohort of ambulatory oncology patients, a majority indicated a preference to receive information on these incidental healthrelated findings, but personal preferences for disclosure of different types of incidental findings should be clarified in advance of ordering a tumor profiling test.Keywords: Genomics, genome, germ-line mutation, incidental findings, questionnaire, disclosure Abstract Introduction: During the process of tumor profiling, there is potential to detect germ-line variants.

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Section: Though Tumor Sequencing Platforms Vary By Technique Germ-limentioning

confidence: 99%

Patient preferences regarding incidental genomic findings discovered during tumor profiling

Yushak

Han

Bouberhan

et al. 2016

Cancer

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“…In fact, the diagnosis of progressive disease in a clinically healthy individual is a new but increasingly frequent scenario for the neurologists and geneticists [50], and it is one that carries ethical implications [51] and underlines the importance of genetic counseling. The genetic approach, being able to shed light on the pathogenetic mechanisms of the disease and thus indicate possible therapeutic avenues, is important both from a research and a clinical perspective.…”

Section: The Genetics Of Admentioning

confidence: 99%

FDG PET and the genetics of dementia

Nacmias

Berti

Piaceri

et al. 2013

Clin Transl Imaging

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Dementias are the most common neurodegenerative diseases and they are increasingly becoming a major public health problem. The most common form of dementia, affecting over 20 million people worldwide, is Alzheimer's disease (AD). AD is a neurodegenerative disease of the central nervous system mainly found in older adults, with an incidence that increases with age. With the development of newer technologies, including genetic screening technologies and PET/MRI scanning, the role of genetic studies and neuroimaging is being redefined; indeed, these approaches are able to provide support not only in the clinical diagnosis of dementia, but also in its presymptomatic evaluation. Many researchers agree that early identification of AD, before abnormal accumulation of amyloid and tau proteins, could provide an opportunity to hinder the progression of the disease. [18 F]2-fluoro-2-deoxy-D-glucose (FDG) PET studies have shown that decreased glucose metabolism in AD precedes clinical diagnosis and that the degree of clinical disability in AD correlates closely with the magnitude of the reduction in brain glucose metabolism. Data on presymptomatic mutation carriers from families with known early-onset autosomal dominant AD (familial AD) show reductions in the cerebral metabolic rate of glucose (CMRglc), consistent with the expected AD PET pattern, in the absence of severe atrophy on MRI. These results suggest that PET CMRglc measures have the potential to serve as preclinical biomarkers of dementia, useful also for tracking disease progression. This review highlights the role of genetics and FDG PET in understanding the pathogenesis of dementia.

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“…However, through screening late manifesting cases would also be detected. This would create a group of pre-symptomatic patients, or patients-in-waiting [18]. In the Netherlands patients with later manifesting forms of Pompe disease are treated with infusions once every two weeks starting when patients show significant signs of muscle weakness or respiratory failure.…”

Section: Introductionmentioning

confidence: 99%

Newborn screening for pompe disease? a qualitative study exploring professional views

Rigter

Reuser

et al. 2014

BMC Pediatr

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BackgroundDevelopments in enzyme replacement therapy have kindled discussions on adding Pompe disease, characterized by progressive muscle weakness and wasting, to neonatal screening. Pompe disease does not fit traditional screening criteria as it is a broad-spectrum phenotype disorder that may occur in lethal form in early infancy or manifest in less severe forms from infancy to late adulthood. Current screening tests cannot differentiate between these forms. Normally, expanding screening is discussed among experts in advisory bodies. While advisory reports usually mention the procedures and outcome of deliberations, little is known of the importance attached to different arguments and the actual weighing processes involved. In this research we aim to explore the views of a wide range of relevant professionals to gain more insight into the process of weighing pros and cons of neonatal screening for Pompe disease, as an example of the dilemmas involved in screening for broad-spectrum phenotype disorders.MethodsWe conducted 24 semi-structured interviews with medical, lab, insurance and screening professionals, and executive staff of patient organisations. They were asked about their first reaction to neonatal screening for Pompe disease, after which benefits and harms and requirements for screening were explored in more detail.ResultsAdvantages included health gain by timely intervention, avoiding a diagnostic quest, having a reproductive choice and gaining more knowledge about the natural course and treatment. Being prepared was mentioned as an advantage for the later manifesting cases. Disadvantages included treatment costs and uncertainties about its effect, the timing of treatment in later manifesting cases, the psychological burden for the patient-in-waiting and the family. Also the downsides of having prior knowledge as well as having to consider a reproductive option were mentioned as disadvantages.ConclusionWhen weighing pros and cons, interviewees attach different importance to different arguments, based on personal and professional views. Professionals expect benefits from neonatal screening for Pompe disease, especially for early-onset cases. Some interviewees valued screening in later manifesting cases as well, while stressing the need for adequate support of pre-symptomatic patients and their families. Others considered the psychological burden and uncertainties regarding treatment as reasons not to screen.

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“I'm fine; I'm just waiting for my disease”

Cited by 41 publications

References 6 publications

Patient preferences regarding incidental genomic findings discovered during tumor profiling

Patient preferences regarding incidental genomic findings discovered during tumor profiling

FDG PET and the genetics of dementia

Newborn screening for pompe disease? a qualitative study exploring professional views

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