作者: Brown, Haywood ; Muzzey, Dale ; Ben-Shachar, Rotem ; Goldberg, James ; Kaseniit, Kristjan E ; Torres, Raul ; Arjunan, Aishwarya ; Johansen Taber, Katherine

PURPOSE:

The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) suggest carrier screening panel design criteria intended to ensure meaningful results. This study used a data-driven approach to interpret the criteria to identify guidelines-consistent panels.

METHODS:

Carrier frequencies in >460,000 individuals across 11 races/ethnicities were used to assess carrier frequency. Other criteria were interpreted on the basis of published data. A total of 176 conditions were then evaluated. Stringency thresholds were set as suggested by ACOG and/or ACMG or by evaluating conditions already recommended by ACOG and ACMG.

RESULTS:

Forty and 75 conditions had carrier frequencies of ≥1 in 100 and ≥1 in 200, respectively; 175 had a well-defined phenotype; and 165 met at least 1 severity criterion and had an onset early in life. Thirty-seven conditions met conservative thresholds, including a carrier frequency of ≥1 in 100, and 74 conditions met permissive thresholds, including a carrier frequency of ≥1 in 200; thus, both were identified as guidelines-consistent panels.

CONCLUSION:

Clear panel design criteria are needed to ensure quality and consistency among carrier screening panels. Evidence-based analyses of criteria resulted in the identification of guidelines-consistent panels of 37 and 74 conditions.

2019-08-01·Genetics in medicine : official journal of the American College of Medical Genetics1区 · 医学

Strategies for Improving Access to Hereditary Cancer Testing: Recommendations from Stakeholders

1区 · 医学

Article

作者: Johansen Taber, Katherine A ; Bonhomme, Natasha ; Lichtenfeld, J Leonard ; Ready, Kaylene

Several studies clearly demonstrate increased cancer risks associated with pathogenic variants in certain genes. BRCA1 and BRCA2 are perhaps the best known, but many other genes have been associated with increased cancer risks, including but not limited to TP53, PTEN, CDH1, PALB2, MLH1, MSH2, MSH6, ATM, STK11, CHEK2, BRIP1, RAD51C, and RAD51D. National Comprehensive Cancer Network guidelines include management recommendations for patients carrying pathogenic variants in these genes. Both tumor/site-specific and “pan-cancer” panels are available to identify patients at increased risk. Both types of panels have the advantage of addressing syndrome heterogeneity and overlap and are less costly than testing each gene independently. Multigene panels also generate a higher rate of pathogenic findings than testing single or a few genes at a time; however, they generate a higher rate of variants of uncertain significance (VUS).1 Despite the potential utility of hereditary cancer panels,2 access to this testing is limited by insurance coverage challenges, including inconsistent or nonexistent coverage policies, preauthorization burdens, and pretest counseling requirements. In November 2017, expert stakeholders from laboratories, patient advocacy organizations, professional societies, and health-care provider organizations were convened by Genetic Alliance (Washington, DC) to identify mechanisms to address these barriers. Participants and their affiliations are listed in the Acknowledgements. Dialogue, shared experiences, and varied perspectives among participants informed a roundtable discussion of several tactics to address insurance-related challenges, resulting in a number of consensus recommendations. Given the real or perceived conflicts of interest of each participant with respect to multigene panel testing, the roundtable was designed to serve as a beginning to a broader conversation. A key recommendation was the formation of a coalition of diverse stakeholders that can work together toward a shared goal of improved patient access to hereditary cancer testing.

项与 Myriad Women's Health, Inc. 相关的新闻（医药）

2025-10-31

·星际微光

“全身智能”时代降临！获投4000万美元的Curve用“组织真值”终结液体活检的“黑箱”乱局

Curve Biosciences近日完成由Luma Group 领投的4000 万美元融资，参投方包括First Spark Ventures、Civilization Ventures 等多家知名机构。公司致力于通过其“全身智能（Whole-Body Intelligence™）”平台，变革慢性病的早期监测与管理。其核心技术是Whole-Body Atlas™ —— 全球最大的人体组织分子蓝图，结合AI 模型与创新血液检测，可更早、更精准地识别慢性病风险。管理团队由来自Genentech、GRAIL、Natera 等顶尖公司的专家组成。此次融资将加速产品的临床验证和商业化，有望推动慢性病管理迈向个性化、前瞻性的新阶段。有问题，问星光智能体！人类基地：AI作曲的“红线”被划定：你的歌有AI参与也能版权保护了，但前提是…... 投资亮点一、技术创新：构建“全身智能”平台 Curve的核心亮点在于其构建的Whole-Body Intelligence™ 平台，该平台结合了人工智能、组织水平的生物学数据（Whole-Body Atlas™）和简化的血液检测（Whole-Body Blood Tests™），通过回归组织真实，实现更早期、精准地识别和管理慢性病。其Whole-Body Atlas™ 是全球首个系统性、手工整理的大规模人体组织数据库，按器官和疾病状态进行表征，为AI 模型提供了强有力的训练基础。这种底层数据驱动的模式，为慢性病早筛带来全新可能。二、市场刚需：慢性病高发，监测方式亟待升级在GLP-1 类药物等慢性病治疗领域取得突破的背景下，如何有效监测病情变化和疗效反应成为痛点。Curve 的血液检测方案具备操作简便、前瞻性强的特点，有望成为常规慢病管理工具。这为平台打开了保险公司、药企、医生和患者之间的数据闭环协同市场，具有医保报销潜力和广阔的市场适配空间。三、顶尖团队加持，执行力强 Curve的管理团队来自GRAIL、Natera、Genentech、Counsyl 等精密医学和生物科技龙头企业，具备丰富的从研发—转化—商业化落地经验。尤其是在癌症早筛、产前筛查和遗传病筛查等复杂血液检测产品的开发和规模化经验，显著降低项目落地风险。此外，首席创新官Shan Wang 教授为斯坦福大学工程学院教授，拥有70 多项专利，在微纳技术、磁传感器等领域有深厚基础，保证平台底层技术的科研先进性。四、投资人结构优质，具备长期价值挖掘能力本轮由Luma Group 领投，联合Civilization Ventures、First Spark Ventures 等深耕生命科学与前沿医疗的专业投资机构，说明项目经过了严格的专业尽调。同时，这些机构具有较强的资源整合能力，有助于未来临床试验、支付通路、监管对接等环节的快速推进。五、平台级潜力，未来拓展空间大 Curve的平台具备高度可扩展性，不仅适用于糖尿病、心血管等慢性病，未来也可能延伸至癌症、神经退行性疾病等多个领域。其“数据+模型+检测”的组合方式，具备平台级变现潜力。 Curve的价值分析一、产品优势 Whole-Body Blood Tests™（全身血液检测）是Curve 的核心产品，区别于目前多集中在癌症筛查的液体活检技术。该产品通过全身组织数据支持的AI 模型，能够实现对多种器官功能的慢性病状态早期识别与监测，更全面、更前瞻、更高精度，且具备操作简便的优势，适合在常规临床中广泛应用。二、技术优势 1、Whole-Body Atlas™（全身图谱）：全球最大、手工标注的组织样本数据库，涵盖40万+样本，按器官和疾病状态系统归类，形成了真正的“分子级人体蓝图”。 2、组织级真值（Tissue-level Ground Truth）：不同于其他公司依赖噪声多、偏差大的血液样本数据，Curve 以组织为锚点，构建模型更具稳定性和可解释性。 3、AI训练模型：在此基础上开发的Whole-Body Intelligence™ 模型，具有显著的数据深度和训练准确性，减少“假阳性/假阴性”问题。三、平台优势 Curve提供的是一个平台型解决方案，不仅限于某一种疾病或检测，而是通过统一数据基础和模型架构，实现跨疾病、跨器官的多场景拓展，具备如下特点： 1、高扩展性：从一个测试产品，逐步拓展至多个疾病类别（糖尿病、肾病、心血管等）； 2、高通用性：可服务患者、医生、保险公司、制药企业等多个利益相关方； 3、高适配性：符合现有医疗流程、易与电子病历系统等集成。四、服务优势可预期的服务模式可能包括： 1、检测服务：面向医院或检测中心提供血液采样与分析； 2、数据服务：为医生提供个性化的慢病预测与管理建议； 3、临床支持：通过整合数据反馈，辅助医疗决策； 4、对接保险与药企：通过模型结果优化支付路径与药物适应症分析。五、商业模式 Curve的商业模式具有以下特征：模块内容 B2B 模式向医院、诊所、健康管理中心等提供检测解决方案 SaaS 平台提供基于Whole-Body Intelligence 的慢病管理平台 B2P 模式与保险公司、制药企业合作，整合到患者管理系统中临床试验支持为药企新药研发提供高分辨率患者分型数据与疗效追踪该模式具备可复制性强、边际成本低、生命周期长的特点。六、医疗价值 Curve的平台和产品在慢性病早筛、个体化管理、疗效监测三大方面具有重要意义： 1、预防为主：通过早期识别，减少晚期治疗费用与资源浪费； 2、治疗指导：结合不同器官状态，调整用药、手术、生活方式； 3、全生命周期管理：不仅聚焦“诊断”，也服务于“持续健康监测”。在全球慢性病高负担（如糖尿病、心血管病、肾病）背景下，其临床意义巨大。七、未来前景 Curve Biosciences具备成为“慢病精准检测平台型公司”的潜力，未来发展趋势可包括： 1、产品线拓展：从慢病检测扩展到神经退行性疾病、免疫疾病等； 2、国际化布局：切入亚太（如日本、韩国）、欧洲高龄化市场； 3、医保渗透：推动产品纳入国家医保/商业保险支付范围； 4、与AI大模型结合：进阶为“虚拟医生+生物数据”结合体； 5、临床药物合作：支持新药疗效分层分析与靶点验证。 Whole-Body Intelligence™ 一、科学原理与方法论 Curve的核心科学原理是：细胞在死亡时会释放DNA 片段进入血液中（cfDNA）。这些cfDNA 携带特定的甲基化模式（methylation signatures），可以反映出其来源的器官与健康状态。 Curve 通过分析这些DNA 的甲基化特征，实现： 1、识别cfDNA 来源的器官 2、判断该器官是否处于健康或病变状态这种方式可在：症状出现前、成像还不具备可行性时、活检不可进行时提前发现慢性病信号，属于“分子级别”的早筛方式。二、核心技术：Whole-Body Intelligence™ 传统血液检测技术大多是“黑箱模型”——缺乏对血液中信号来源的真实、生物学锚定。 Curve的创新在于：引入Whole-Body Atlas™（全身图谱）作为训练基础这是全球最大、手动整理的组织样本数据库，按器官和疾病状态进行详细标注。每个样本都与其来源组织及病理状态相对应，提供了“组织级别的真值（ground truth）”。基于这些组织样本，Curve 构建AI 模型，使其能够将血液中cfDNA 的甲基化模式精准映射回源器官。这项方法： 1、提高了AI 模型的训练质量与可解释性； 2、避免了“血液中混乱信号”对模型准确度的干扰； 3、创造了可追溯的组织-血液-疾病三重对应关系。三、Whole-Body Blood Tests™ 的临床应用潜力与传统方法的关键差异：项目传统液体活检 Curve 的Whole-Body Blood Tests 数据来源血液中cfDNA、但不确定来源器官血液cfDNA + 精准溯源到组织模型训练多为黑箱模型，噪声大基于Whole-Body Atlas，具备生物真实锚点检测范围多集中于癌症早筛面向多种慢性病（如肝病、肾病、心衰等）精准性特异性、敏感性波动大准确率更高，早期预警能力强临床价值通常为“补充性工具” 有望成为“主流监测方案” 四、AI 模型的独特性 Curve的AI 模型有如下特点： 1、以甲基化特征为主输入变量，提供稳定、组织特异性强的信号； 2、训练集明确来源于Whole-Body Atlas 样本库，数据质量高； 3、可对血液中混杂的cfDNA 分离归因，实现“器官级别”的检测结果； 4、具备可解释性，便于医生采纳与医保方信任。这类AI 模型不仅用于诊断，还具备指导治疗、监测进展、追踪疗效等多种潜力。五、潜在适应症与应用场景结合原理推测，其适应症可涵盖以下领域：疾病类别应用价值肝脏疾病可用于脂肪肝、肝纤维化、早期肝癌监测肾功能衰退通过肾源cfDNA 变化监测功能恶化心血管疾病心肌损伤相关cfDNA 提前预警心衰神经退行性疾病脑源cfDNA 有潜力应用于阿尔茨海默病研究自身免疫病多系统受累时，识别起始靶器官与病程演变六、总体优势与战略前景 1、回归生物真实：不依赖“仅从血液看问题”，而是从“组织-血液-疾病”建立稳定链条； 2、平台型结构：同一方法可应用于多种疾病，极具横向拓展潜力； 3、突破现有技术瓶颈：避免“数据噪声”、“模型泛化差”的老问题； 4、未来可与影像、基因组等多模态融合，强化多维监测能力； 5、赋能精准医疗与医保支付判断，推动慢病管理走向个性化。欲深入了解更多行业洞察，请扫以下二维码加入社群：公司已完成项目星际微光已完成的项目（截至2023.9，仍在继续......）圆满中秋 | 星际微光七年完成100个咨询项目咨询、调研、PR、投资、融资、营销、技术转化项目需求请扫码联系我们：点击“阅读原文”，看看：AI怎样影响世界？

2025-10-29

·Business Wire

Curve Biosciences Raises $40 Million to Bring Whole-Body Intelligence to Chronic Disease Monitoring

SAN MATEO, Calif.--(BUSINESS WIRE)--Curve Biosciences, the Whole-Body Intelligence™ company, today announced it has raised $40 million in funding led by Luma Group with participation from First Spark Ventures, Techas Capital, Micah Spear, Civilization Ventures, LifeX Ventures, Incite, Mintaka VC, NZVC, and others. The funding will advance the clinical validation and commercialization of Curve’s Whole-Body Intelligence platform to transform chronic disease monitoring. Curve has created the first molecular blueprint of the human body with the company’s Whole-Body Atlas™ — the world’s largest collection of manually curated tissue samples characterized by organ and disease state. By returning to tissue-level biological truth, the company is creating simple, proactive Whole-Body Blood Tests™ that anticipate chronic disease, guide treatment, and align patients, insurers, pharma, and doctors. “Chronic diseases are on the rise, and healthcare costs are skyrocketing as a result. We need to improve patient monitoring to realize the positive impacts of breakthroughs like GLP-1s,” said Ritish Patnaik, PhD, CEO and Co-Founder, Curve Biosciences. “To raise the standard of chronic disease monitoring, we are now introducing the first Whole-Body Intelligence platform with AI models trained on our Whole-Body Atlas and fueled by our Whole-Body Blood Tests. We’ve paired this platform with a successful executive team to realize our vision for proactive, personalized chronic care that minimizes suffering.” Curve’s executive team includes: Ritish Patnaik, PhD, Chief Executive Officer – Former business development at Genentech, with deep expertise in AI, data engineering and precision testing. Nathan Hunkapiller, PhD, Chief Scientific Officer – Previously Head of R&D at Natera and Head of R&D at GRAIL, where he led the development of advanced blood tests for oncology, prenatal screening and hereditary cancer screening. Alice Chen, PhD, Chief Operating Officer – Former Head of Product and Program Management at GRAIL, where she led strategy for a multi-cancer early detection blood test, after leadership roles at Natera, Progyny and Sienna Biopharmaceuticals. Chuba Oyolu, PhD, Chief Technology Officer – Founding Scientist and Senior Site Director at Counsyl, where he led the automation, delivery, and scaling of advanced blood tests for prenatal screening and hereditary cancer screening. Prof. Shan Wang, PhD, Chief Innovation Officer and Scientific Founder – Leland T. Edwards Professor in the School of Engineering at Stanford University with 300+ publications and 70+ issued or pending patents over his 30+ year academic career. The company will provide further information on its Whole-Body Intelligence platform and chronic disease pipeline in the upcoming months. “We believe Curve’s Whole-Body Intelligence platform represents the next frontier in clinical testing, with the potential to fundamentally reshape how we monitor and manage chronic disease,” said Themasap Khan, PhD, Co-Founder and Partner, Luma Group. “By anchoring in human tissue data, Curve is building a clinically actionable platform with clear reimbursement potential and massive market applicability.” About Curve Biosciences Curve Biosciences is the Whole-Body Intelligence company. Curve has created the first molecular blueprint of the human body by manually curating the world’s largest collection of comprehensively-characterized tissue samples into its Whole-Body Atlas. Trained on the clarity of this atlas, the company’s Whole-Body Intelligence models identify chronic disease states through its Whole-Body Blood Tests earlier and more accurately than other methods. Curve’s mission is to provide doctors the best intelligence for their patients and to alleviate the pain of chronic diseases by anchoring medicine in biological truth. The company is based in San Mateo, CA. For more information, visit www.curvebio.com.

2025-10-29

·MDDI Online

Diagnostics Startup Raises $40M to Transform Chronic Disease Monitoring with AI-Powered Blood Tests

A diagnostics startup is developing a blood test that can monitor the impact of chronic disease on the body – and investors are taking notice. Curve Biosciences , which has developed Whole Body Intelligence blood tests, reported it has raised $40 million in funding led by Luma Group with participation from First Spark Ventures, Techas Capital, Micah Spear, Civilization Ventures, LifeX Ventures, Incite Labs, Mintaka Ventures, NZVC, and others. The proceeds will be used to advance the clinical validation and commercialization of Curve’s Whole-Body Intelligence platform to transform chronic disease monitoring. Curve Biosciences was formed about three years ago, when it was spun out from Stanford University. Ritish Patnaik, PhD, CEO and Co-Founder, spoke about the company’s formation and discussed the premise behind the Whole Body Intelligence blood tests. “We built a whole different technology stack that we call Whole Body Intelligence, dating back to my days at Stanford,” he said. “The premise of it is that about 10% of the biological material in the blood comes from these other organs. How do we cut down that 10% and really account for the full 10% for each patient such that we're able to find the 0.1% - the minute trace signals from different chronic diseases - to see if these diseases are progressing or regressing in patients over the course of decades, right?” Patnaik added, “So we built the first iteration of Whole Body Intelligence. The database that Whole Body Intelligence is trained on is called the Whole Body Atlas. We built the first iteration of the Whole Body Atlas back when I was at Stanford. About three years ago, we spun out the company from Stanford. At that point, we built further iterations of the Whole Body Atlas, started training AI models off of the Whole Body Atlas, and started building blood tests that we called Whole Body Blood Tests that used the Whole Body Intelligence models to be able to identify progression and regression of these diseases in patients.” The Whole Body Atlas is a collection of manually curated tissue samples characterized by organ and disease state. Patnaik spoke about how the company was able to raise funding in a strained environment. “We've been very blessed when it comes to receiving significant funding during what you mentioned is a challenging fundraising climate,” he said. “But yeah, it's really because of our differentiated technology, our white space opportunity, and our excellent team. Investors stepped up when they saw all three of those things.” Patnaik went into further detail about what the proceeds would be used for and plans for the company. Patnaik said part of the secret sauce behind the success of the company is the executive team and the experience they bring. Nathan Hunkapiller, PhD, CSO– Previously Head of R&D at Natera and Head of R&D at Grail, where he led the development of advanced blood tests for oncology, prenatal screening, and hereditary cancer screening. Alice Chen, PhD, COO – Former Head of Product and Program Management at Grail, where she led strategy for a multi-cancer early detection blood test, after leadership roles at Natera, Progyny, and Sienna Biopharmaceuticals. Chuba Oyolu, PhD, CTO – Founding Scientist and Senior Site Director at Counsyl, where he led the automation, delivery, and scaling of advanced blood tests for prenatal screening and hereditary cancer screening. Prof. Shan Wang, PhD, CIO and Scientific Founder – Leland T. Edwards Professor in the School of Engineering at Stanford University, with 300+ publications and 70+ issued or pending patents over his 30+ year academic career. From left to right: Nathan Hunkapiller, PhD, CSO; Alice Chen, PhD, COO; Shan Wang, PhD, Chief Innovation Officer and Scientific Founder; Chuba Oyolu, PhD, Chief Technology Officer. “We believe Curve’s Whole-Body Intelligence platform represents the next frontier in clinical testing, with the potential to fundamentally reshape how we monitor and manage chronic disease,” said Themasap Khan, PhD, Co-Founder and Partner, Luma Group. “By anchoring in human tissue data, Curve is building a clinically actionable platform with clear reimbursement potential and massive market applicability.”

100 项与 Myriad Women's Health, Inc. 相关的药物交易

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100 项与 Myriad Women's Health, Inc. 相关的转化医学

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