MyOme在2025年ACMG会议上推出其罕见病产品组合-动脉网

MyOme Launches their Rare Disease Product Portfolio at ACMG 2025

CISION 等信源发布 2025-03-20 00:00

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Advancing Rare Disease Diagnostics with Whole Genome Insights

利用全基因组洞察推进罕见病诊断

MENLO PARK, Calif.

门洛帕克，加利福尼亚州

，

March 19, 2025

2025年3月19日

/PRNewswire/ -- MyOme, a leader in clinical whole-genome analysis and polygenic risk scores, is pleased to announce the launch of its rare disease diagnostic offering at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting on

/PRNewswire/ -- MyOme，临床全基因组分析和多基因风险评分领域的领导者，欣然宣布将在美国医学遗传学与基因组学学会 (ACMG) 年度会议上推出其罕见病诊断服务。

March 19, 2025

2025年3月19日

. This milestone marks MyOme's first diagnostic product, part of a broader innovation roadmap aimed at transforming genomic medicine. MyOme's approach goes beyond current standards by leveraging whole genome sequencing (WGS) and laying the foundation for future diagnostic advancements aimed at increasing patient access and the fraction of patients accurately diagnosed..

这一里程碑标志着MyOme的首个诊断产品，这是旨在改变基因组医学的更广泛创新路线图的一部分。MyOme的方法超越了当前的标准，利用全基因组测序（WGS）并为未来的诊断进展奠定了基础，旨在增加患者获取诊断的机会以及提高准确诊断的患者比例。

A New Era in Rare Disease Diagnostics

罕见病诊断的新时代

Rare diseases affect over 300 million people worldwide.

罕见疾病影响着全球超过3亿人。

Patients face a diagnostic journey of–on average–over six years and costing on average

患者面临一条平均超过六年的诊断之旅，平均花费

$10,000

10,000美元

to the health system, not accounting for the emotional trauma and lost productivity. Even then, only about 40% of people eventually get a diagnosis, leaving physicians and patients unsure about how to treat or manage disease

对健康系统造成负担，还未考虑情感创伤和生产力损失。即便如此，只有大约40%的人最终得到诊断，导致医生和患者不确定如何治疗或管理疾病。

. 50% Of those diagnosed are children and 80% of rare diseases have a genetic origin.

50%的诊断病例为儿童，80%的罕见病具有遗传起源。

MyOme's Rare Disease diagnostic product addresses these challenges by providing a more comprehensive WGS-based approach, promoting efficient and accurate diagnosis, leading to improved patient outcomes while shortening the time to diagnosis. Key features of MyOme's Rare Disease diagnostic test:

MyOme的罕见病诊断产品通过提供更全面的基于WGS的方法应对这些挑战，促进高效和准确的诊断，从而改善患者预后并缩短诊断时间。MyOme罕见病诊断测试的主要特点包括：

Comprehensive Genomic Analysis

全面的基因组分析

: Built on a whole genome backbone, the test shortens the diagnostic odyssey by eliminating the need for multiple, sequential tests

：该测试基于全基因组骨架，通过消除多次顺序测试的需要，缩短了诊断过程。

Flexible Testing Options

灵活的测试选项

: Available to order as genome and exome analysis (proband-only or with duo/trio analysis including up to two first-degree relatives to enhance variant interpretation), as well as copy number analysis.

：可作为基因组和外显子组分析（仅先证者或包含二人/三人分析，包括多达两名一级亲属以增强变异解读）以及拷贝数分析进行订购。

Patient-Centric Approach

以患者为中心的方法

: Compassionate clinical support, transparent billing, and access to genetic counseling.

富有同情心的临床支持、透明的账单以及获得遗传咨询的机会。

Future-proofed Platform:

面向未来的平台：

WGS enables reanalysis as clinical profiles evolve, algorithms mature, and technology advances.

WGS能够随着临床特征的变化、算法的成熟和技术的进步进行重新分析。

'As a clinician, I often see delays because genetic tests look at just one small piece of the puzzle. MyOme's genome backbone is a big step forward from the status quo—reducing the need for repeated tests and reauthorization by enabling ongoing reanalysis and reuse of genetic data. We've put significant effort into making the process of adding new information easy for patients and providers,' says Dr.

“作为一名临床医生，我经常看到因为基因测试只着眼于拼图的一小部分而导致的延误。MyOme的基因组骨架是当前现状的一大进步——通过启用持续的重新分析和基因数据的重复使用，减少了重复测试和重新授权的需求。我们投入了大量精力，使患者和医疗服务提供者能够轻松添加新信息。”博士说道。

。

Akash Kumar

阿卡什·库马尔

, MD, PhD, CSO and CMO at MyOme. 'I'm excited to use this product because of its focus on reflex testing and meeting patients where they are today. At ACMG, we'll be sharing our collaborative efforts using long-read sequencing to push our diagnostic yields even further.'

医学博士，MyOme的首席科学官和首席医学官。“我对此产品的使用感到兴奋，因为它专注于反射测试，并满足患者当前的需求。在ACMG会议上，我们将分享我们利用长读长测序进行合作的努力，以进一步提高我们的诊断率。”

Patients can submit a blood or buccal swab sample along with up to two first degree relatives. Samples and analysis are processed in a CLIA (spell it out) and CAP accredited lab.

患者可以提交血液或颊拭子样本，并附上最多两位一级亲属的样本。样本和分析在CLIA（临床实验室改进修正案）和CAP认证的实验室中进行处理。

ACMG 2025 Highlights

ACMG 2025 亮点

MyOme launched its Rare Disease diagnostic product at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting on

MyOme在美国医学遗传学与基因组学学会 (ACMG) 年会上推出了其罕见病诊断产品。

March 19, 2025

2025年3月19日

. The event featured a special lunch session titled 'Advancing Rare Disease Diagnostics' where attendees learned about the capabilities of MyOme's whole genome platform and its potential to transform rare disease diagnostics.

该活动设有一个名为“推进罕见病诊断”的特别午餐会，与会者了解了MyOme的全基因组平台的功能及其在改变罕见病诊断方面的潜力。

Speakers included Dr.

发言人包括博士。

Akash Kumar

阿卡什·库马尔

, MD, PhD, CSO and CMO at MyOme,

医学博士，哲学博士，MyOme公司的首席科学官和首席医疗官，

Stephen Montgomery

斯蒂芬·蒙哥马利

, PhD Associate Professor at

，博士，副教授 tại

Stanford University

斯坦福大学

, and

，以及

Danny Miller

丹尼·米勒

, PhD Assistant Professor at

博士，助理教授 tại

University of Washington

华盛顿大学

。

In addition to the lunch session, MyOme presented two scientific posters that showcased the breadth of our genomic innovation:

除了午餐会议，MyOme还展示了两份科学海报，彰显了我们在基因组创新方面的广度：

'Evaluating the Clinical Utility of a Cross-Ancestry Integrated Risk Score for Coronary Artery Disease Prevention' -

‘评估跨血统综合风险评分在冠状动脉疾病预防中的临床效用’-

Poster #P314

海报 #P314

'Assessing Breast Cancer Risk: A Comparative Analysis of Ancestry-Adjusted PRS Models in Women of Ashkenazi Jewish Heritage' -

‘评估乳腺癌风险：德系犹太女性中基于祖源调整的PRS模型的比较分析’

Poster #

海报 #

P105

For more information, visit

欲了解更多信息，请访问

myome.com.

我的家。

or join us at ACMG 2025.

或加入我们参加ACMG 2025。

References

参考文献

Rare Disease International, Living with a Rare Disease.

国际罕见病，与罕见病共存。

https://www.rarediseasesinternational.org/living-with-a-rare-disease/

Pandey, Rajshree, et al. 'A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases.' Genetics in Medicine (2025): 101398.

潘迪，拉吉什里，等。《基因组和外显子组测序在儿童罕见及未诊断遗传疾病中的诊断率与临床应用的荟萃分析》。《医学遗传学》（2025）：101398。

About MyOme

关于 MyOme

MyOme is a clinical whole genome analysis company helping families understand their risk for diseases. As a leader in polygenic and AI-based integrative risk modeling, MyOme leverages the power of the whole genome and clinical data for a lifetime of meaningful and actionable insights. These capabilities can dramatically reduce healthcare costs and improve outcomes by catching disease earlier and taking steps to delay or stop their onset.

MyOme是一家临床全基因组分析公司，帮助家庭了解他们患疾病的风险。作为多基因和基于人工智能的综合风险建模领域的领导者，MyOme利用全基因组和临床数据的力量，提供终身有意义且可操作的洞察。这些能力可以通过及早发现疾病并采取措施延缓或阻止其发作，大幅降低医疗成本并改善健康结果。

Certified under the Clinical Laboratory Improvement Amendments (CLIA) and certified by the College of American Pathologists (CAP), MyOme is based in .

MyOme 基于美国临床实验室改进修正案 (CLIA) 认证，并获得美国病理学家学会 (CAP) 认证。

Menlo Park, California

门洛帕克，加利福尼亚州

SOURCE MyOme, Inc

来源：MyOme, Inc

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