Jessie H Conta

Jessie H Conta
Seattle Children's Hospital · Department of Laboratories

Master of Science

About

16
Publications
1,162
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Introduction
Skills and Expertise

Publications

Publications (16)
Article
Context.— Genomic molecular testing practices in a pediatric tertiary care institution. Objective.— To evaluate exome sequencing (ES) ordering practices and the effects of applying criteria to support ES stewardship. Exome sequencing can provide molecular diagnostic information for patients with known or suspected genetic diseases, but it is relat...
Article
Full-text available
Purpose of Review Genetic test stewardship programs are increasingly common within hospital and reference laboratories, as are genetic test optimization efforts by individual practitioners. Genetic counselors play a critical role in guiding providers to medically appropriate genetic tests. This short review aims to summarize the impact of genetic c...
Article
Introduction The complexity and relative high cost of genetic tests combined with stringent administrative and medical coverage policies can negatively impact test accessibility and, ultimately, patient care. The burden of test preauthorization typically falls on the ordering provider and team, and is particularly cumbersome for specialists that do...
Chapter
Utilization management of genetic testing requires a combination of gentle, medium, and strong interventions, each of which can be customized to best fit an institution. Analogous to other fields in the laboratory, the motivation for monitoring and improving utilization of genetic tests is maximizing the value for the patient by emphasizing the qua...
Article
Currently, newborn screening (NBS)2 occurs within the first 2 days of life and involves heel-stick blood spot collection. The disorders screened for vary between states; they must include 21 specific disorders but can encompass up to 50 others. Disorder screening inclusion criteria can be simplified into 2 main considerations: ( a ) the newborn sho...
Article
Full-text available
Objectives To characterize error rates for genetic test orders between medical specialties and in different settings by examining detailed order information. Methods We performed a retrospective analysis of a detailed utilization management case database, comprising 2.5 years of data and almost 1,400 genetic test orders. After review by multiple r...
Article
Purpose: The broad use of single-nucleotide polymorphism microarrays has increased identification of unexpected consanguinity. Therefore, guidelines to address reporting of consanguinity have been published for clinical laboratories. Because no such guidelines for clinicians exist, we describe a case and present recommendations for clinicians to d...
Article
Mutations in POMT1 lead to a group of neuromuscular conditions ranging in severity from Walker-Warburg syndrome to limb girdle muscular dystrophy. We report two male siblings, ages 19 and 14, and an unrelated 6-year old female with early onset muscular dystrophy and intellectual disability with minimal structural brain anomalies and no ocular abnor...
Article
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...
Article
Laboratory genetic counselors within hospital laboratories and genetic testing laboratories have an important role in increasing the appropriate utilization of genetic tests. This service is becoming more important as genetic testing becomes more complex and the demand for genetic testing in healthcare increases. Additionally genetic tests are amon...
Article
Exome and whole genome sequencing (ES/WGS) offer potential advantages over traditional approaches to diagnostic genetic testing. Consequently, use of ES/WGS in clinical settings is rapidly becoming commonplace. Yet there are myriad moral, ethical, and perhaps legal implications attached to the use of ES and health care professionals and institution...
Article
Exome and whole genome sequencing (ES/WGS) offer potential advantages over traditional approaches to diagnostic genetic testing. Consequently, use of ES/WGS in clinical settings is rapidly becoming commonplace. Yet there are myriad moral, ethical, and perhaps legal implications attached to the use of ES and health care professionals and institution...
Article
This chapter reviews the current knowledge of the molecular genetics and genomics of congenital heart disease (CHD). Recommendations for genetic evaluation of patients and families with CHD include screening, molecular diagnosis, and counseling. CHD refers to structural malformations of the heart and great vessels that result from abnormal embryoni...
Article
Full-text available
Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,...

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