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Leslie Burnett

Publications and source records attributed to Leslie Burnett.

7 recordsLinked to original sources
PubMed2025

A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screening.

The data described in this publication supported the development and evaluation of pan-ancestry reproductive carrier screening panels for autosomal recessive (AR) and X-linked (XL) conditions. Raw data included combined sets of DNA variants in 1,350 AR/XL genes obtained from the ClinVar and gnomAD databases. The dataset enabled calculations of positive yield for individuals and couples across both ancestry-specific and pan-ancestry, optimised "Goldilocks"-ranked gene panels, addressing population-specific variations in the frequencies of heterozygous individuals and carrier couples. The positive yield analysis offered a performance metric for carrier screening panels, facilitating the modeling of screening performance for panels of varying sizes and composition and providing resources for optimizing panel content to ensure equity across underrepresented genetic ancestries The dataset can support ongoing research into the equitable application of carrier screening and offers significant reuse potential for refining population genetic screening practices, validating computational models, and developing frameworks to update carrier screening panels in alignment with evolving genomic data, including in underrepresented and minority populations.

Carrier screening↗
PubMed2025

Optimizing gene panels for equitable reproductive carrier screening: The Goldilocks approach.

PURPOSE: Professional organizations recommend pan-ancestry carrier screening for autosomal recessive and X-linked conditions. Advances in DNA sequencing have allowed the analysis of hundreds of genes; however, the optimal number of genes for carrier screening remains unclear. The American College of Medical Genetics and Genomics (ACMG) has proposed a tiered approach recommending screening for 113 genes. METHODS: We analyzed ClinVar and gnomAD v4.1.0, for genes associated with serious autosomal recessive and X-linked conditions and modeled screening performance across panels of varying compositions and sizes in diverse genetic ancestries. We also reevaluated the ACMG gene list using the updated gnomAD data. RESULTS: We identified potential inconsistencies in the ACMG gene lists, particularly in the carrier test performance (defined as a positive yield) for underrepresented genetic ancestry groups. Modeling of the population data for 1310 genes revealed that the screening of 152, 248, 531, and 725 genes achieved 90%, 95%, 99%, and 99.7% positive yields, respectively, in couples. Real-world data from the screening of more than 60,000 couples were used to validate the model. CONCLUSION: Our methodology optimizes the gene content of carrier screening panels for diverse ancestry groups, provides a mechanism for continually updating guidelines, ensures consistency with genomic population data, and improves equity across populations.

Humans↗
PubMed2006

Ethical considerations in the use of DNA for the diagnosis of diseases.

Scientific advances in genetics have recently provided new information and enabled new interventions that are challenging existing ethical conventions. ISO 15189:20031 obliges the laboratory to consider its ethical responsibilities and the AACB (through membership of the IFCC) has taken a leading role in the discussion of evolving new ethical frameworks. This paper discusses the ethical implication of many of these recent advances in genetics and highlights some of the still unresolved ethical issues.

Journal Article↗
PubMed2004

Improving the quality of information on pathology request forms.

BACKGROUND: We have investigated the causes of incomplete pathology request forms received at our clinical chemistry laboratory. Based on a request form audit we found that the data most frequently missing from a pathology request form was the doctor's name, unique identification provider number, or signature. METHODS: We examined the effect of issuing the requesting doctors with self-inking stamps personalized with their name and a unique provider number. RESULTS: The intervention led to an immediate and sustained improvement in compliance, with the proportion of incomplete forms falling from 43% to 2%. In contrast, distribution of a memorandum alone made no significant change to the number of pathology request forms with incomplete data arriving at the laboratory. CONCLUSION: This study describes a simple and low-cost solution to one of the causes of incomplete pathology request forms. It also demonstrates the effectiveness of systems improvement in health care.

Medical Records↗
PubMed2003

The "GeneTrustee": a universal identification system that ensures privacy and confidentiality for human genetic databases.

This article describes a generic model for access to samples and information in human genetic databases. The model utilises a "GeneTrustee", a third-party intermediary independent of the subjects and of the investigators or database custodians. The GeneTrustee model has been implemented successfully in various community genetics screening programs and has facilitated research access to genetic databases while protecting the privacy and confidentiality of research subjects. The GeneTrustee model could also be applied to various types of non-conventional genetic databases, including neonatal screening Guthrie card collections, and to forensic DNA samples.

Confidentiality↗
PubMed2002

Optimizing the availability of 'stat' laboratory tests using Shewhart 'C' control charts.

BACKGROUND: We describe a general strategy for optimizing the availability of 'stat' out-of-hours laboratory tests to the particular clinical needs of health care institutions. METHODS: We initially introduced a consensus menu of 'stat' tests and prospectively monitored for 5 years all additional requests for 'stat' clinical biochemistry tests in a metropolitan tertiary referral university teaching hospital. Laboratory staff triaged 'stat' requests, and clinical biochemistry consultants reviewed requests not already performed routinely. The frequency of these requests was monitored on a Shewhart 'c' control chart. A quality system certified to ISO 9001 was used to assure laboratory compliance with procedures. Various interventions were tested using the Shewhart 'c' control chart to monitor their effectiveness. RESULTS: Matching the timing of analytical assays with the time of sample collection had no significant effect on the number of 'stat' requests. Implementation of a hospital-wide laboratory information system also had no significant effect on the number of 'stat' requests. The most effective strategy consisted of optimization of the test menu to match request patterns, combined with the introduction of a laboratory quality system. CONCLUSIONS: Within our institution, this strategy resulted in a sevenfold reduction in 'stat' requests, from one per 2,200 specimens to fewer than one per 32,000 specimens.

Blood Chemical Analysis↗