From Cohorts to Clinics: The New Landscape of Global Healthcare – PRECISE-IHCC Conference 21-23 Aug 2024

July 03, 2024 - 02:24PM - by Sophie Forman

NCI Seeks Input on Existing Study Populations with Multi-Cancer Detection Test Results and Available Samples for Germline Testing

July 03, 2024 - 02:10PM - by Sophie Forman

NCI Seeks Input on Existing Study Populations with Multi-Cancer Detection Test Results and Available Samples for Germline Testing

The National Cancer Institute (NCI) published a Request for Information (RFI) in the NIH Guide for Grants and Contracts seeking input from those with cancer case-control, cancer case series, or longitudinal studies of Multi-Cancer Detection (MCD) liquid biopsy tests about the feasibility of an NCI-sponsored ancillary study focused on MCD performance among people at high genetic risk for cancer.

Individuals with a higher genetic risk for cancer frequently face elevated risk for various types of cancer, encompassing cancer types with recommended screening tests or procedures and those without. An existing challenge is how to screen for cancers from multiple organ systems among those at high genetic risk for cancer. Newly developed MCD liquid biopsy tests have the potential to detect multiple types of cancer from a single blood draw, including cancers for which there are currently no recommended screening modalities available. A single blood test capable of identifying the multiple cancers in those with genetic predisposition to cancer offers a promising solution but currently lacks the evidence that these tests are effective in any population, including those at high genetic risk for cancer.

Although reports of MCD test performance, including sensitivity, specificity, positive predictive value, and negative predictive value, are available for average-risk populations, there is currently limited information on MCD test performance among individuals at high genetic risk for cancer. Additional research is needed to determine the performance of MCD tests among those at high genetic risk for cancer, and the generation of evidence may be possible by use of existing study populations with prior MCD testing and cancer follow-up data.

NCI seeks information on the topics listed below.

  1. Interest in participating in an NCI-led ancillary study to evaluate MCD test performance among people at high genetic risk for cancer.
  2. Description of the samples available for germline sequencing among individuals that have already been tested using an MCD test and description of the MCD test used.
  3. Description of the study population(s) available, including study design and inclusion/exclusion criteria.
  4. Total number of cancer cases in the study population.
  5. Total number of individuals without cancer in the study population.

Access the Request for Information:

Comments can be submitted electronically through June 10, 2024, to Please include the Request for Information Notice number (NOT-CA-24-046) in the subject line of your email. All individual responses will remain confidential.

Hybrid Workshop: Sustaining Community Engagement in Genomics Research

May 22, 2024 - 07:01PM - by Sophie Forman

The National Academies Genomic Roundtable is hosting a public hybrid meeting: Sustaining Community Engagement in Genomics Research on July 17, 2024 from 8:30a – 3p ET. 

Register here if interested. Workshop description available online and below.

This hybrid workshop will examine how researchers could more meaningfully engage and sustain interactions with historically underrepresented communities in research to foster their participation in genomics and precision health studies. The overarching goal of the workshop is to help improve the quality of genomics research by understanding where obstacles to sustained community involvement remain.

The workshop may include invited presentations and discussions to:

  • Understand limitations, both logistical (e.g., funding) and structural (e.g., past harms, lack of trustworthiness), to sustained community outreach and discuss possible solutions to those obstacles.
  • Examine opportunities for researcher trainings related to sustained community outreach and engagement in genomics research. 
  • Discuss community engagement methods for genomics research with foundations, societies, patient groups, and other organizations about lessons learned from how they fund, engage, form, and measure success of partnerships with communities, other foundations/organizations, and researchers.
  • Explore how community engagement methods for genomics research might differ when working with various underrepresented communities (e.g. LGBTQIA+, people with disabilities, racially minoritized groups, indigenous populations, women, geographically isolated groups). 

MAGen NOFOs published

May 15, 2024 - 03:13PM - by Sophie Forman

NHGRI, in collaboration with the Office of Data Science Strategy, announces two Notices of Funding Opportunity for the creation of a consortium of MAGen Sites and a Coordinating Center.

UG3/UH3 (Clinical Trial Not Allowed) for MAGen Development Sites:

UG3/UH3(Clinical Trial Not Allowed) for a Coordinating Center

The National Human Genome Research Institute has issued two Notices of Funding Opportunity (NOFO) to solicit applications to explore the feasibility of developing Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease. NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively identify both genomic and non-genomic factors influencing disease development in individuals carrying pathogenic genetic variants. The ML/AI tools will leverage existing multimodal genomic and non-genomic data and will be cross validated in genomic translational research settings to ensure the robustness and generalizability of the tools for translational purposes. In addition, the Consortium will explore the ethical, legal, and social implications (ELSI) of integrating ML/AI tools into genomic medicine through the establishment of an ELSI Framework for their development, and through implementation of ELSI research projects. The resources generated by the Consortium will be disseminated to the research community.

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