Utilization and Diagnostic Yield of Neurogenetic Testing at a Tertiary Care Facility

Edlefsen, Kerstin L.; Tait, Jonathan F.; Wener, Mark H.; Astion, Michael L.

doi:10.1373/clinchem.2006.083360

Cited by 13 publications

(12 citation statements)

References 8 publications

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“…The technology and prices evolve rapidly, making it difficult for busy clinicians to stay current with the costs and benefits of any particular genetic test. 9,10 Specialists who are not geneticists often find themselves outside their comfort zone when ordering genetic tests, especially when a genetic disease is low on their differential diagnosis. A report by ARUP (Salt Lake City, Utah) showed one-third of genetic tests were ordered in error, and using a genetic counselor in the laboratory decreased errors in genetic test ordering.…”

Section: Ncreasing Health Care Costs Affect Everyone In the Unitedmentioning

confidence: 99%

Improving the Value of Costly Genetic Reference Laboratory Testing With Active Utilization Management

Dickerson

Cole

Conta

et al. 2014

Archives of Pathology &Amp; Laboratory Medicine

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Context.-Tests that are performed outside of the ordering institution, send-out tests, represent an area of risk to patients because of complexity associated with sending tests out. Risks related to send-out tests include increased number of handoffs, ordering the wrong or unnecessary test, specimen delays, data entry errors, preventable delays in reporting and acknowledging results, and excess financial liability. Many of the most expensive and most misunderstood tests are send-out genetic tests.Objective.-To design and develop an active utilization management program to reduce the risk to patients and improve value of genetic send-out tests.Design.-Send-out test requests that met defined criteria were reviewed by a rotating team of doctoral-level consultants and a genetic counselor in a pediatric tertiary care center.Results.-Two hundred fifty-one cases were reviewed during an 8-month period. After review, nearly onequarter of genetic test requests were modified in the downward direction, saving a total of 2% of the entire send-out bill and 19% of the test requests under management. Ultimately, these savings were passed on to patients.Conclusions.-Implementing an active utilization strategy for expensive send-out tests can be achieved with minimal technical resources and results in improved value of testing to patients.

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Section: Ncreasing Health Care Costs Affect Everyone In the Unitedmentioning

confidence: 99%

Improving the Value of Costly Genetic Reference Laboratory Testing With Active Utilization Management

Dickerson

Cole

Conta

et al. 2014

Archives of Pathology &Amp; Laboratory Medicine

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“…However, the impact of this program is probably small because of the low rate of positivity for SCA testing (only 6% for patients without a known family history of SCA. )24…”

Section: Intellectual Property Landscape – Athena Diagnosticsmentioning

confidence: 99%

“…Genetic tests are available for 12 of the genetic subtypes, representing an estimated 65–80% of SCA cases (Table 1). Edlefsen et al compared the cost effectiveness of genetic tests 24. In this study, 162 patients were given a total of 282 neurogenetic tests.…”

Section: Physician Utilization and Access (Interviews With Neurologists)mentioning

confidence: 99%

“…For the HD test, the symptoms, family history of chorea, and need to test only a single locus makes selection of a genetic test straightforward. For the SCA tests, the cost of the test itself varied from $225 for a single-locus test (for a known mutation in a second or subsequent family member) to $2,335 for a test requiring sequencing 24. Twenty-seven genetic tests for SCA, ordered for 18 patients, were either for single variants (17 of 27; SCA3, 7, 8, 10, 12, 14, 17) or as a panel (10 of 27; SCA1–3, & 6–7).…”

Section: Physician Utilization and Access (Interviews With Neurologists)mentioning

confidence: 99%

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Spinocerebellar ataxia: Patient and health professional perspectives on whether and how patents affect access to clinical genetic testing

Powell

Chandrasekharan

Cook-Deegan

2010

Genetics in Medicine

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Genetic testing for spinocerebellar ataxia (SCA) is used in diagnosis of rare movement disorders. Such testing generally does not affect treatment, but confirmation of mutations in a known gene can confirm diagnosis and end an often years-long quest for the cause of distressing and disabling symptoms. Through interviews and a web forum hosted by the National Ataxia Foundation, patients and health professionals related their experiences with patents’ impact on access to genetic testing for SCA. In the United States, Athena Diagnostics holds either a patent or an exclusive license to a patent in the case of 6 SCA variants (SCA1-3 & 6-8) and two other hereditary ataxias (Friedreich’s Ataxia and Early Onset Ataxia). Athena has enforced its exclusive rights to SCA-related patents by sending cease and desist letters to multiple laboratories offering genetic testing for inherited neurological conditions, including SCA. Roughly half of web forum respondents had decided not to get genetic tests. Price, coverage and reimbursement by insurers and health plans, and fear of genetic discrimination were the main reasons cited for deciding not to get tested. Price was cited as an access concern by the physicians, and as sole US provider, coverage and reimbursement depend on having payment agreements between Athena and payers. In cases where payers do not reimburse, the patient is responsible for payment, although some patients can apply to the voluntary Athena Access and Patient Protection Programs offered by the company.

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“…The most accurate way to diagnose this genetic disease is molecular genetic testing, using a gene panel that typically includes individual assays for the five most prevalent SCA subtypes (SCA1, SCA2, SCA3, SCA6, SCA7) and aiming to detect the pathogenic CAG-repeat expansion in one of these genes. 17 We developed a patent categorization method to rank European and US patents according to their impact on SCA testing. Our method facilitates the assessment of actual hampering effects of granted patents towards products and methods used in diagnostic testing, and could similarly serve to assess freedom to operate in other fields of technology.…”

Section: Introductionmentioning

confidence: 99%

Impact of gene patents on diagnostic testing: a new patent landscaping method applied to spinocerebellar ataxia

2011

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Recent reports in Europe and the United States raise concern about the potential negative impact of gene patents on the freedom to operate of diagnosticians and on the access of patients to genetic diagnostic services. Patents, historically seen as legal instruments to trigger innovation, could cause undesired side effects in the public health domain. Clear empirical evidence on the alleged hindering effect of gene patents is still scarce. We therefore developed a patent categorization method to determine which gene patents could indeed be problematic. The method is applied to patents relevant for genetic testing of spinocerebellar ataxia (SCA). The SCA test is probably the most widely used DNA test in (adult) neurology, as well as one of the most challenging due to the heterogeneity of the disease. Typically tested as a gene panel covering the five common SCA subtypes, we show that the patenting of SCA genes and testing methods and the associated licensing conditions could have far-reaching consequences on legitimate access to this gene panel. Moreover, with genetic testing being increasingly standardized, simply ignoring patents is unlikely to hold out indefinitely. This paper aims to differentiate among so-called 'gene patents' by lifting out the truly problematic ones. In doing so, awareness is raised among all stakeholders in the genetic diagnostics field who are not necessarily familiar with the ins and outs of patenting and licensing.

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Utilization and Diagnostic Yield of Neurogenetic Testing at a Tertiary Care Facility

Cited by 13 publications

References 8 publications

Improving the Value of Costly Genetic Reference Laboratory Testing With Active Utilization Management

Improving the Value of Costly Genetic Reference Laboratory Testing With Active Utilization Management

Spinocerebellar ataxia: Patient and health professional perspectives on whether and how patents affect access to clinical genetic testing

Impact of gene patents on diagnostic testing: a new patent landscaping method applied to spinocerebellar ataxia

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