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Development of recommendations and policies for genetic variant reclassification

制定遗传变异重新分类的建议和政策

基本信息

批准号：
10218237
负责人：
Paul Stuart Appelbaum
金额：
$ 68.29万
依托单位：
COLUMBIA UNIVERSITY HEALTH SCIENCES
依托单位国家：
美国
项目类别：
财政年份：
2018
资助国家：
美国
起止时间：
2018-09-24 至 2023-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10218237
关键词：
Address Adoption Advocate Affect Agreement Algorithms American Area Automobile Driving Benign Caring Classification Client ClinVar Clinical Clinical Laboratory Improvement Amendments Communities Computing Methodologies Consensus Consultations Data Databases Development Diagnosis Disadvantaged Economics Ethical Analysis Ethical Issues Ethics Family Cancer History Focus Groups Foundations Future Genes Genetic Genome Genomics Goals Guidelines Health Health Personnel Heart Diseases Individual Insurance Laboratories Legal Medical Medical Genetics Minor Modeling Neurologic Neurologist Oncologist Paper Parents Pathogenicity Patients Physicians Policies Positioning Attribute Professional Organizations Provider Recommendation Recontacts Reporting Resolution Series Specific qualifier value Surveys Test Result Testing Time Update Variant Work adverse outcome base clinical decision-making clinically significant cost data to knowledge design economic evaluation economic impact ethnic diversity ethnic minority population exome genetic counselor genetic testing genetic variant genomic data health economics medical schools medical specialties meetings operation prevent racial minority risk prediction whole genome working group

项目摘要

Project Abstract As genomic sequence data are being produced faster and at lower cost, the most significant challenge in clinical genetic testing today is variant classification. Currently, there are marked differences in variant classification among clinical laboratories, with clinically significant discrepancies in 29% of variants interpreted. Variants that were previously categorized as pathogenic are now known to be benign with the increasing availability of more ethnically diverse reference data, and this is issue is more common for individuals of non-European ancestry. At the same time, a substantial percentage of variants are classified as of unknown significance (VUS), with inadequate data to prove or disprove a pathogenic association with a medical condition. Progress in interpreting genomic data, however, will lead to greater agreement on how to call variants that are currently subject to discrepant classifications and the question arises about how will that information about reclassification of variants reach patients and their health care providers. There is currently no definitive guidance from professional organizations or opinion leaders about how to handle variant reclassification, and the field seems uncertain how to respond. Stakeholders including laboratories, providers, patients, and payers likely have different perspectives and opinions. To provide an empirical foundation for this critical discussion and develop guidance for the field, we will conduct a series of activities including focus groups and online surveys with 3 key stakeholder groups: patients, providers, and the laboratories. We will have three working groups to define the legal, ethical, and economic aspects to consider and develop possible solutions. We will host an annual meeting with experts on genetics, clinical laboratory operations, reimbursement, health economists, regulatory and legal issues, and ethics, along with clinicians and patient advocates, to provide guidance for the project, to review the data and develop a set of options and a final set of recommendations to address this issue. We will seek input on possible solutions from stakeholders through an online survey and arrive at final recommendations that we will present to the genomics community and to board of the American College of Medical Genetics and Genomics to guide the adoption of an acceptable and responsible policy in for this rapidly changing area.

项目摘要

项目成果

期刊论文数量（12）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Cases in Precision Medicine: Is There an Obligation to Return Reinterpreted Genetic Results to Former Patients?

DOI：
10.7326/m22-3682
发表时间：
2023-04
期刊：
Annals of internal medicine
影响因子：
39.2
作者：
Appelbaum PS;Burke W;Parens E;Roberts J;Berger SM;Chung WK
通讯作者：
Chung WK

GENETIC DUTIES.

遗传职责。

DOI：
发表时间：
2020
期刊：
William and Mary law review
影响因子：
0
作者：
Roberts,JessicaL;Foulkes,AlexandraL
通讯作者：
Foulkes,AlexandraL

The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review.

具有不确定临床意义的遗传变异的挑战：叙事回顾。

DOI：
10.7326/m21-4109
发表时间：
2022-07
期刊：
Annals of internal medicine
影响因子：
39.2
作者：
Burke W;Parens E;Chung WK;Berger SM;Appelbaum PS
通讯作者：
Appelbaum PS

Impact of Genetic Testing for Cardiomyopathy on Emotional Well-Being and Family Dynamics: A Study of Parents and Adolescents.

DOI：
10.1161/circgen.120.003189
发表时间：
2021-08
期刊：
Circulation. Genomic and precision medicine
影响因子：
0
作者：
Ahimaz P;Sabatello M;Qian M;Wang A;Miller EM;Parrott A;Lal AK;Chatfield KC;Rossano JW;Ware SM;Parent JJ;Kantor P;Yue L;Wynn J;Lee TM;Addonizio LJ;Appelbaum PS;Chung WK
通讯作者：
Chung WK

Challenges and potential solutions to health disparities in genomic medicine.

基因组医学健康差异的挑战和潜在解决方案。