Genomics and Precision Medicine Clinical Reference Group

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9 Comments

  1. Graham Ponting

    HPO and SNOMED cross mapping - a draft mapping has been added to the Community Content page for discussion.

    see HPO to SNOMED CT Map - Community Content - SNOMED Confluence (ihtsdotools.org)

  2. Inge Soons

    Ian Green I got a question from the Dutch Federation Medical Specialists if there is or is going to be a map between SNOMED and OMIM? What are the current thoughts about that? 

    1. Ian Green

      Hi Inge,

      We had initial discussions with them about 2 years ago. At the time, their were no clear Member requirements to undertake any work, in addition OMIM required us to pay a license fee in perpetuity  of $55K per year to "use" OMIM. In view of both of these issues, we did not take the discussions any further

      kind regards

      Ian

  3. Graham Ponting

    I appreciate it may not be what they need, but HPO includes links to OMIM and ORPHA, and has some SNOMED links.

    see an example at https://hpo.jax.org/browse/term/HP:0001662

    Graham Ponting

    1. Inge Soons

      Thank you. Indeed in Orphanet I also found linkages to OMIM. Do you know how those links are maintained and validated?

  4. Ian Green

    I agree, it will depend on what the requirements are ?

    Ian

  5. Graham Ponting

    You will need to ask the HPO team but agreed, that is a critical aspect of any mapping.

    Graham

  6. Yiwen Zhuang

    Exploratory Study: Standards for Cell, Tissue, and Gene Therapy Products (CTGTP)

    Hello, everyone!

    I’m Zhuang Yiwen from Singapore, and my team and I are conducting an exploratory study on standards for Cell, Tissue, and Gene Therapy Products (CTGTP).

    In Singapore, CTGTPs are regulated by the Health Sciences Authority (HSA) under the Health Products Act (HPA) and the Health Products (Cell, Tissue, and Gene Therapy Products) Regulations 2021. These products are risk-stratified into two classes:

    Class 1 CTGTP (lower risk)

    Class 2 CTGTP (higher risk)

    CTGTP which satisfies ALL the following criteria:

    • Minimally manipulation of human cell or tissue
    • Intended for homologous use.
    • Not combined or used in conjunction with therapeutic products or medical device

    Other CTGTP which are not classified as Class 1 CTGTP

    Examples of Class 1:

    • Bone grafts of orthopaedic indications
    • Scleral patch graft for ocular surgery
    • Blood products for transfusion

    Examples of Class 2:

    • Gene modified cells
    • Cells grown on scaffold
    • Culture expanded cells

    Despite this framework, there are currently no mandated standards for representing these products in clinical documentation. To address this gap, our study aims to identify the clinically crucial information that should be captured by exploring current documentation practices.

    We Would Love to Hear From You!

    We’re reaching out to international public and private hospitals as well as clinical trial facilities to learn about your local documentation practices. Your insights will be invaluable to our study.

    Questions:

    1. Documentation Practices

    • How does your institution document the ordering and dispensing of low-risk and high-risk CTGTPs?
      (e.g., free-text entries, structured data formats like drop-down menus, or a combination).
    • If possible, could you share screenshots (redacted of patient-identifying details) of your systems for ordering, dispensing, administering, or tracking CTGTPs?
    • Are there compulsory data attributes for high-risk CTGTP products such as KYMRIAH® or ZOLGENSMA®?
    • How can electronic systems like Electronic Medical Records (EMRs) streamline the documentation process for these products?
    • Are there additional data attributes worth tracking to enhance research or population-level analyses? Examples:
      • Component Class (e.g., Apheresis Platelets, Bone Mandible).
      • Manufacturing Conditions (e.g., 20–24°C, Liquid Nitrogen).
      • Variable Attributes (e.g., Injectable, Cryopreserved, Allogeneic).

    2. Standards and Coding Systems

    • What standards or coding systems (e.g., ISBT 128) does your institution use for CTGTP identification and tracking?
    • If local codes are used, do they include additional details (e.g., donor information, batch numbers), or are they primarily serialized codes?

    3. Tracking and Recall

    • What methods does your facility use for tracking and recalling CTGTPs?

    Additionally, we welcome any workflows, insights, or inputs from your experience. Every contribution helps! Your feedback will assist us in better understanding global practices and guiding the development of a standardized framework for CTGTP documentation.

    Thank you for your time and support.

    Zhuang Yiwen

    Singapore

  7. Graham Ponting

    Hi Zhuang,

    Replying as an interested individual terminologist, much of what you ask does not apply to SNOMED as the organisation is not involved directly in patient care, but the International Release of the Terminology is widely used in EPR systems. Elements of the terminology might be involved within the configuration of local systems, to support the information collection. For example a list of blood products is given here;

    https://browser.ihtsdotools.org/?perspective=full&conceptId1=410652009&edition=MAIN&release=&languages=en

    I hope this clarifies the situation a little. 

    Graham Ponting