Advertisement

Topics

A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.

08:00 EDT 1st April 2019 | BioPortfolio

Summary of "A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing."

There are approximately 7,000 rare diseases affecting 25-30 million Americans, with 80% estimated to have a genetic basis. This presents a challenge for genetics practitioners to determine appropriate testing, make accurate diagnoses, and conduct up-to-date patient management. Exome sequencing (ES) is a comprehensive diagnostic approach, but only 25%-41% of the patients receive a molecular diagnosis. The remaining three-fifths to three-quarters of patients undergoing ES remain undiagnosed. The Stanford Center for Undiagnosed Diseases (CUD), a clinical site of the Undiagnosed Diseases Network, evaluates patients with undiagnosed and rare diseases using a combination of methods including ES. Frequently these patients have non-diagnostic ES results, but strategic follow-up techniques identify diagnoses in a subset. We present techniques used at the CUD that can be adopted by genetics providers in clinical follow-up of cases where ES is non-diagnostic. Solved case examples illustrate different types of non-diagnostic results and the additional techniques that led to a diagnosis. Frequent approaches include segregation analysis, data reanalysis, genome sequencing, additional variant identification, careful phenotype-disease correlation, confirmatory testing, and case matching. We also discuss prioritization of cases for additional analyses.

Affiliation

Journal Details

This article was published in the following journal.

Name: Journal of genetic counseling
ISSN: 1573-3599
Pages: 213-228

Links

DeepDyve research library

PubMed Articles [32372 Associated PubMed Articles listed on BioPortfolio]

Diagnostic uncertainty: from education to communication.

Diagnostic uncertainty is common in clinical practice and affects both providers and patients on a daily basis. Yet, a unifying model describing uncertainty and identifying the best practices for how ...

Diagnostic Utility of Exome Sequencing for Kidney Disease.

Exome sequencing is emerging as a first-line diagnostic method in some clinical disciplines, but its usefulness has yet to be examined for most constitutional disorders in adults, including chronic ki...

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic.

Next-generation sequencing is a powerful diagnostic tool, yet it has proven inadequate to establish a diagnosis in all cases of congenital hypotonia or childhood onset weakness. We sought to describe ...

The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.

The Epilepsy Genetics Initiative (EGI) was formed in 2014 to create a centrally managed database of clinically generated exome sequence data. EGI performs systematic research-based reanalysis to ident...

Whole Exome Sequencing in daily practice: the possibilities and impossibilities of this diagnostic test.

Whole Exome Sequencing (WES) is becoming a standard diagnostic tool for patients who potentially suffer from an underlying monogenic condition. This is illustrated by the use of WES panels for specifi...

Clinical Trials [7068 Associated Clinical Trials listed on BioPortfolio]

Coordination Toolkit and Coaching Project

The Coordination Toolkit and Coaching (CTAC) project aims to disseminate strategies for coordination of care for high-risk Veterans via an online toolkit, while evaluating the benefits of ...

Interactive Patient-Centered Discharge Toolkit

The goal of this study is to implement and evaluate an interactive patient-centered discharge toolkit (PDTK) to engage patients and care partners in discharge preparation and communication...

North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2

The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit...

The Use of a Language Toolkit for Toddlers

To investigate whether young children with isolated expressive language delay benefit from early intervention with a simple language toolkit and brief instructions provided to their caregi...

Experiences of Genetics Patients With Visible Abnormalities Who Facilitate Teaching in Genetics Clinics

This study will describe the experience of patients with visible physical abnormalities in the genetics clinic when they are involved in teaching others about their condition. Information ...

Medical and Biotech [MESH] Definitions

Visits made by patients to health service providers' offices for diagnosis, treatment, and follow-up.

Providers that by mandate or mission organize and deliver a significant level of health care and other health-related services to the uninsured, Medicaid recipients, and other vulnerable patients.

The process of helping patients to effectively and efficiently use the health care system when faced with one or more of these challenges: (1) choosing, understanding, and using health coverage or applying for assistance when uninsured; (2) choosing, using, and understanding different types of health providers and services; (3) making treatment decisions; and (4) managing care received by multiple providers.

Providers of initial care for patients. These PHYSICIANS refer patients when appropriate for secondary or specialist care.

An approach to health care financing with only one source of money for paying health care providers. The scope may be national (the Canadian System), state-wide, or community-based. The payer may be a governmental unit or other entity such as an insurance company. The proposed advantages include administrative simplicity for patients and providers, and resulting significant savings in overhead costs. (From Slee and Slee, Health Care Reform Terms, 1993, p106)

Advertisement
Quick Search
Advertisement
Advertisement

 


DeepDyve research library

Relevant Topics

DNA sequencing
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...


Searches Linking to this Article