Patients with Amyotrophic Lateral Sclerosis Have High Interest in and Limited Access to Genetic Testing

Wagner, Karin; Nagaraja, Haikady N.; Allain, Dawn C.; Quick, Adam; Kolb, Stephen J.; Roggenbuck, Jennifer

doi:10.1007/s10897-016-0034-y

Cited by 20 publications

(41 citation statements)

References 18 publications

(19 reference statements)

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“…. However, ALS patients have reported difficulty accessing genetic testing 92. Indeed, studies have yet to estimate the proportion of the ALS population that engage with genetic testing and genetic counseling.…”

Section: Introductionmentioning

confidence: 99%

Amyotrophic lateral sclerosis: improving care with a multidisciplinary approach

Hogden¹,

Foley²,

Henderson³

et al. 2017

JMDH

133

107

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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease, leading to death within an average of 2–3 years. A cure is yet to be found, and a single disease-modifying treatment has had a modest effect in slowing disease progression. Specialized multidisciplinary ALS care has been shown to extend survival and improve patients’ quality of life, by providing coordinated interprofessional care that seeks to address the complex needs of this patient group. This review examines the nature of specialized multidisciplinary care in ALS and draws on a broad range of evidence that has shaped current practice. The authors explain how multidisciplinary ALS care is delivered. The existing models of care, the role of palliative care within multidisciplinary ALS care, and the costs of formal and informal care are examined. Critical issues of ALS care are then discussed in the context of the support rendered by multidisciplinary-based care. The authors situate the patient and family as key stakeholders and decision makers in the multidisciplinary care network. Finally, the current challenges to the delivery of coordinated interprofessional care in ALS are explored, and the future of coordinated interprofessional care for people with ALS and their family caregivers is considered.

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Section: Introductionmentioning

confidence: 99%

Amyotrophic lateral sclerosis: improving care with a multidisciplinary approach

Hogden¹,

Foley²,

Henderson³

et al. 2017

JMDH

133

107

View full text Add to dashboard Cite

show abstract

“…We also examined whether seeing a genetic counselor was associated with a more positive test experience. Survey data collected on ALS patient attitudes indicated that patients who reported contact with a genetic counselor had more positive attitudes regarding the potential benefits of genetic testing for patients, the medical community, and society (Wagner et al., ). However, we found that seeing a genetic counselor was not associated with more positive test experience scores in our survey.…”

Section: Discussionmentioning

confidence: 99%

“…All results were tabulated and exported in .xls and/or .csv format for analysis. The survey instrument was described in detail previously (Wagner et al, 2016), and is available in Supporting Information. Those respondents who were offered and had genetic testing were given additional questions addressing outcome of their genetic testing and disclosure of results.…”

Section: Ethical Compliancementioning

confidence: 99%

“…In order to study patient access, attitudes, and experience with ALS genetic testing, we conducted a survey of ALS patients enrolled in a national ALS registry. Data collected on respondent demographics, understanding of ALS genetics, and attitudes toward genetic testing were previously reported (Wagner et al., ). Here, we report data collected from a subset of respondents who actually underwent genetic testing.…”

Section: Introductionmentioning

confidence: 99%

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Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing

Wagner

Nagaraja

Allain

et al. 2017

Molec Gen & Gen Med

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BackgroundAmyotrophic lateral sclerosis (ALS) is increasingly recognized as a genetic disease. There is no consensus, however, as to the role of genetic testing in the care of the ALS patient.MethodsWe conducted a survey to study patient access, attitudes, and experience with ALS genetic testing among patients enrolled in a US ALS registry.ResultsAmong 449 survey respondents, 156 (34.7%) were offered testing and 105 of 156 (67.3%) completed testing. The majority of respondents with familial ALS (fALS) (31/45, 68.9%) were offered testing, while a minority of respondents with sporadic ALS (sALS) (111/404, 27.5%) were offered testing (p = .00001). Comparison of mean test experience scores between groups revealed that respondents with fALS were no more likely to report a favorable experience with genetic testing than those with sALS (p = .51). Respondents who saw a genetic counselor did not have significantly different test experience scores, compared to those who did not (p = .14). In addition, no differences in test experience scores were observed between those who received positive or negative genetic test results (p = .98).ConclusionThese data indicate that patients with ALS found value in clinical genetic testing.

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“…Genetic counseling should be offered routinely to all ALS patients [78], ideally through accessing ALS MDCs. The addition of genetic counselors to the clinical team enables patients to receive specialized advice in a supportive environment dedicated to ALS care.…”

Section: Future Perspectivementioning

confidence: 99%

Patient-centered Decision Making in Amyotrophic Lateral Sclerosis: Where are we?

Hogden

Crook

2017

Neurodegener. Dis. Manag.

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Practice pointsr Amyotrophic lateral sclerosis patients are supported by models of patient-centered decision making delivered through specialized multidisciplinary clinics. r Advances in research have led to changes in service delivery, with new members added to the multidisciplinary team. r Developments in genetics research have increased the complexity of patients' choices for genetic testing. r User-designed decision support tools could improve communication between patients' families and clinicians, to negotiate this complex and ever-changing care.Developments in amyotrophic lateral sclerosis research and care delivery have created new arenas, and new dilemmas, for patients' decision making. This review explores three aspects of amyotrophic lateral sclerosis patient-centered care and decision making: patient-centered service delivery through the expanding multidisciplinary team; decision making for genetic testing and the implications of undergoing testing; and development of user-designed decision support tools to help patients and families make decisions as their choices become more complex. Until a cure is found, well-timed and effective decision making will rely on patient and family preferences to guide them through an increasingly complicated disease landscape. Amyotrophic lateral sclerosis (ALS) is a disease in search of a cure, or at least a highly effective treatment that will alleviate symptoms and slow disease progression. Until this can be achieved, people living with ALS, and their families, rely on healthcare services to help them manage their symptoms and maximize their quality of life as their needs increase. Best practice for people with ALS adopts a multidisciplinary approach of specialized care [1] that draws on patient-(or person-) centered principles and practices for cohesive and collaborative care [2].Patient-centered care, and the decision making that underpins it, have been defined, conceptualized and modeled many times [3][4][5][6][7]. In short, four principles [5] apply: affording people dignity, respect and compassion; offering coordinated care; offering personalized care; and enabling people to develop their unique range of capabilities to participate in their own care. Shared decision making, where patients and health professionals collaborate to arrive at a care decision, is considered best practice for patient-centered healthcare delivery [8]. Although preferences for sharing decision making vary with age, cultural background and disease setting [9][10][11], a majority of patients prefer to make their decisions using this approach [9]. Decision making for ALS care is often more complicated than for other degenerative conditions, as continual change in the patient's condition and circumstances mean that decision making is ongoing throughout the, frequently brief, course of the disease. Time frames for choosing and implementing a treatment may be short; and the number of health professionals to consult may be extensive; with multiple decisions under consideration at one time.

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Patients with Amyotrophic Lateral Sclerosis Have High Interest in and Limited Access to Genetic Testing

Cited by 20 publications

References 18 publications

Amyotrophic lateral sclerosis: improving care with a multidisciplinary approach

Amyotrophic lateral sclerosis: improving care with a multidisciplinary approach

Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing

Patient-centered Decision Making in Amyotrophic Lateral Sclerosis: Where are we?

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