Molecular Technologies Open New Clinical Genetic Vistas

Jackson, Laird G.; Pyeritz, Reed E.

doi:10.1126/scitranslmed.3002064

Cited by 22 publications

(18 citation statements)

References 18 publications

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“…[5][6][7][8][9]29,30 Clinical management of such sequence variations of unknown significance, including the consideration of abortion, makes prenatal genetic testing very difficult and ambivalent. 5,6 In addition, recent studies have shown that even healthy subjects can carry several mutations in their DNA that were previously thought to always cause severe disease. 31 Thus, diagnostic wholegenome resequencing will require methods to determine which of the several suspicious mutations is disease-causing.…”

Section: Discussionmentioning

confidence: 99%

“…On the other hand, latest full genome-sequencing technologies have to deal with extensive genomic variation, thus making the interpretation of potential disease-causing mutations very difficult, time-consuming and expensive. [5][6][7][8][9] However, next-generation sequencing (NGS) technologies combined with linkage analyses will be even more powerful and improve the quality of prenatal counseling for many patients.…”

Section: Introductionmentioning

confidence: 99%

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Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

Arélin

Schulze²,

Müller‐Myhsok

et al. 2012

Eur J Hum Genet

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Genome-wide linkage analysis is an established tool to map inherited diseases. To our knowledge it has not been used in prenatal diagnostics of any genetic disorder. We present a family with a severe recessive mental retardation syndrome, where the mother wished pregnancy termination to avoid delivering another affected child. By genome-wide scanning using the Affymetrix (Santa Clara, CA, USA) 10k chip we were able to establish the disease haplotype. Without knowing the exact genetic defect, we excluded the condition in the fetus. The woman finally gave birth to a healthy baby. We suggest that genome-wide linkage analysis - based on either SNP mapping or full-genome sequencing - is a very useful tool in prenatal diagnostics of diseases

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

Arélin

Schulze²,

Müller‐Myhsok

et al. 2012

Eur J Hum Genet

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“…16 Each new technology requires assessment by the ACCE criteria: analytic validity, clinical validity, clinical utility, and societal implications, including ethical, legal, and economic concerns. 17 The evaluation of some aspects of clinical utility of a genetic test can be approached through various investigations that include costs.…”

Section: Discussionmentioning

confidence: 99%

Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia

Zayac

Trerotola

Asch

et al. 2012

Genetics in Medicine

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Purpose: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder of vascular development resulting in direct connections between the arterial and venous systems, bypassing capillaries. Symptoms and signs can appear throughout life and marked intrafamilial variability confounds diagnosis based purely on clinical criteria. We set out to determine the impact of genetic testing on the cost of screening for HHT in at-risk relatives. methods:We performed economic modeling of idealized pedigrees following two scenarios: repeated clinical screening until an HHT diagnosis could be either affirmed or excluded, and mutation testing in the proband, followed by genetic testing of at-risk relatives and clinical monitoring of only those relatives who test positive for the familial mutation.Results: Based on actual reimbursement data from our region's largest health insurer, the molecular diagnostic model saved over $22,000 for a family with four relatives at risk for the initial diagnostic work-up. For a cohort of 100 probands, the total savings for the molecular diagnostic model over a reasonable period of follow-up was greater than $9 million. conclusion: In this idealized setting in which all probands and at-risk relatives accepted molecular testing, the economic advantages of genetic screening over repeated clinical screening are substantial. 2012:14(6):604-610 Genet Med

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“…107 The goal was to identify those that were heterozygous for a particular mutation allowing the individual to make informed reproductive decisions. As one author described it, “Current progress in genetic testing technology offers to merge the concepts of carrier testing, pregnancy screening, and prenatal diagnosis for genetic disease into one manageable continuum.” 108 ACMG strongly favors carrier screening over prenatal testing, based on long turnaround times and the complex nature of genomic sequencing. 109 In a May 2012 statement, the ACMG indicated that whole genome sequencing and whole exome sequencing should not be used at this time for prenatal screening.…”

Section: Next Generation Sequencing Processmentioning

confidence: 99%

Clinical Integration of Next Generation Sequencing: Coverage and Reimbursement Challenges

Deverka¹,

Dreyfus

2014

J. Law. Med. Ethics

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Public and private payers face complex decisions regarding whether, when, and how to cover and reimburse for next generation sequencing (NGS)‐based tests. Yet a predictable reimbursement pathway is critical both for patient access and incentives to provide the market with better clinical evidence. While preliminary data suggests that payers will use similar evidentiary standards as those used to evaluate established molecular diagnostic tests, the volume and complexity of information generated by NGS raises a host of additional considerations for payers that are specific to this technology.

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Molecular Technologies Open New Clinical Genetic Vistas

Cited by 22 publications

References 18 publications

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia

Clinical Integration of Next Generation Sequencing: Coverage and Reimbursement Challenges

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