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New Working Group on Artificial Intelligence and Genomic Diagnostics (WG-AIGD)

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The new Working Group on Artificial Intelligence and Genomic Diagnostics (WG-AIGD) is part of the Emerging Technology Division (ETD). Artificial intelligence (AI) is an important emerging technology, and in the future, it is likely that this technology will become embedded in many aspects of medicine. In particular, it is expected to play a key role in laboratory medicine.

Accordingly, a familiarity with this technology and its scope, applications, accessibility, and limitations will become important in the practice of laboratory medicine in the future. The focus of this WG is the area defined by the intersection of artificial intelligence,
genomics, and clinical diagnostics.

Members of the new WG-Vol are: Dr. Larry Kricka (Chair), Dr. Linnea Baudhuin (Member), Dr. Adam Ertel (Member), Dr. Paolo Fortina (Member), Dr. Tom Hope (Member), Dr. Chris McCudden (Member), Dr. Jason Park (Member), Dr. Sergei Polevikov (Member),
Daniel Satchkov (Member).

The terms of reference for the new working group are (i) to evaluate and monitor emerging trends and directions of research and development in the field defined
by the intersection of artificial intelligence, genomics, and clinical diagnostics, (ii) to develop an in-depth assessment of the application of AI (deep learning, machine learning) in genomic (molecular) diagnosis, (iii) to develop periodic updates of the applications

of AI in clinical genomic testing, (iv) to assess the accessibility and the barriers to routine implementation of AI in clinical genomic testing, and (v) to develop a resource that will inform the IFCC community on developments and trends in the applications of artificial intelligence in clinical genomic testing.

Planned projects include a survey of the clinical diagnostic applications of AI in genomics, including recent literature, companies, clinical diagnostic products, and clinical trials.

Input into this survey will be solicited from the wider academic, clinical diagnostic,
and industry community. In view of the continuing pandemic, we will specifically assess the role of AI in genomic tests for detecting COVID-19.

Other projects will explore the utility of AI-based search engines in searching the AI and genomics literature for emerging diagnostic applications. An important activity for the WG will be to develop recommendations/best practices for clinical laboratories validating and/or evaluating AI-based diagnostic or prognostic methods (e.g., minimum elements of a method that need to be shared to evaluate and/or validate a method).

For other information on the Working Group and its projects, visit: ifcc.org/ifcc-emerging-technologies-division/etd-working-groups/wg-aigd

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Joint IFCC WorldLab and APFCB Congress in June 2022

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Dear Colleagues,

We are pleased to inform you that the 24th WorldLab Congress in Seoul will be held jointly with the 16th APFCB (Asia-Pacific Federation of Clinical Biochemistry) Congress in June 2022.

The IFCC and APFCB have agreed that a joint conference would be more attractive and beneficial for both conference delegates and corporate sponsors and will ensure wider participation from laboratory professionals and industry partners across Asia-Pacific and around the world.

The host Society, the Korean Society for Clinical Chemistry (KSCC) has also very graciously agreed to host the joint WorldLab-APFCB Congress in Seoul which has also been approved by the IFCC and APFCB Executive Boards.

The Joint WorldLab-APFCB Congress will be held on 26th -30th June 2022 in Seoul at the Coex Convention and Exhibition Center.

We welcome all IFCC national societies and corporate members to actively participate in this major and exciting event next year.

Yours sincerely

Prof. Khosrow Adeli

IFCC President

The newly formed Task Force on Global Newborn Screening (TF-NBS)

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by Dr. Van Leung-Pineda

  • IFCC Task Force on Global Newborn Screening Co-Chair
  • Department of Pathology and Laboratory
  • Children’s Healthcare of Atlanta, US

Prof. James R. BONHAM

  • IFCC Task Force on Global Newborn Screening Co-Chair
  • International Society of Neonatal Screening (ISNS)
  • National Newborn Screening Laboratory Lead United Kingdom, UK

The newly formed Task Force on Global Newborn Screening (TF-NBS) held its inaugural meeting this January. This group is tasked with initiating and advancing NBS programs in developing countries in collaboration with multiple worldwide organizations.

Newborn screening is one of the great successes in public health, providing actionable information that can result in the timely treatment of metabolic diseases before they can cause irreparable damage to affected children.

This has resulted in many benefits, for society as a whole significantly reducing the healthcare costs and most importantly saving lives for some and allowing many more to lead healthy and fulfilling lives contributing back to society. For example, data from 2013
showed that annual care for phenylketonuria (PKU) patients that are treated too late costs $1-2 billion dollars.

In contrast, the costs required for screening and treatment are only about $342 million dollars. Newborn screening for another condition, congenital hypothyroidism, can save an estimated $400 million dollars annually. This means that if all PKU and congenital
hypothyrodism patients could be detected and treated early, there could be a $1-2 billion dollars saved per year just from those 2 conditions. Despite this, many children in the world are not screened for these conditions, leading to a poor quality of life for them and
often their families.

The Global Task Force on Newborn Screening, TF-NBS, is composed of individuals from all corners of the world, united by a passion and desire to make NBS screening available for every child. The TF-NBS mandate is to identify and partner with local authorities and other global organizations to pilot advances in NBS programs in developing countries.

The goal is not just to create or improve NBS programs but to ensure that there is an ethical pathway to ensure sustainability and development.

Read more: https://www.ifcc.org/media/478852/ifccenewsmarch2021.pdf#page=7

IFCC C-ETPLM, SSIEM, ISNS Survey on Impact of COVID-19 on Pediatric Laboratory Medicine

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The coronavirus disease-2019 (COVID-19) pandemic has spread globally since its first detection in December 2019. In many regions, the COVID-19 is now entering a second and subsequent waves of outbreak. A recent survey by The International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) Task Force on COVID-19 has revealed that laboratories have had to change their operations to manage the pandemic, including diverting resources and deferring services.

Pediatric laboratory medicine is a unique practice serving a vulnerable group of patients. It includes highly specialized testing that aims to detect and treat inherited conditions early to avoid adverse outcomes. This survey by the IFCC Committee on Emerging Technologies in Pediatric Laboratory Medicine (C-ETPLM), in partnership with the Society for the Study of Inborn Errors of Metabolism (SSIEM) and the International Society for Neonatal Screening (ISNS), is conducted to:

  1. Understand how laboratories serving the pediatric population have changed their clinical service delivery in response to the initial wave (January to July 2020) of the COVID-19 pandemic
  2. Evaluate how these changes are affecting clinical care
  3. Gather experiences learned from managing the initial wave(s) of the pandemic to improve laboratory preparedness for future outbreaks

This 17-item survey is completely voluntary and should take approximately 10 minutes to complete. The results of this survey will be analyzed in an aggregated manner and published to inform the larger clinical community. No individually identifiable information will be made public. The privacy of individuals shall be respected. By proceeding with this survey, you have provided an implied consent to the above. 

Deadline to submit the survey is : 15 March 2021

Click here to start the survey

For queries about the survey, please contact Dr Tim Lang (tim.lang@nhs.net)

EFLM Academy webinar: Reference intervals verification by indirect methods

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Speaker: Dr. Matteo Vidali (IT)   

Moderator: Dr. Andrea Padoan (IT)     

Webinar manager: Dr. Dganit Itzhaky (IL)

Indirect methods are data mining techniques for establishing reference intervals. Despite limitations (no precise control of the reference population and preanalytical factors, no consensus on the best procedure to select data or the best statistical algorithm), they present many advantages over the traditional direct approach: reduced costs, better matching between preanalytical and analytical conditions with routine conditions, narrower confidence limits, usefulness in specific age groups or with uncommon sample types, possibility to derive continuous reference limits.

In this presentation, advantages, limitations and the main statistical algorithms of the indirect approach will be introduced. The use of indirect methods for reference intervals verification will be discussed.

The webinar is accessible for EFLM Academy members only.

Genomics of Brain Disorders (Virtual Conference)

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This conference will bring together scientists and clinicians working on neurodegenerative and psychiatric diseases to compare approaches used and the emerging lessons from both categories of disease.

Psychiatric disorders, such as schizophrenia and depression, and neurodegenerative disorders, such as Alzheimer’s disease and Parkinson’s disease, are placing an increasing burden on the developed world. Technical advances over the past few years, including genome-wide association studies and next generation sequencing studies, have led to the discovery of many predisposing loci for both psychiatric and neurodegenerative disorders.

This meeting will synthesise the advances and remaining challenges in the genomics of various brain disorders. We will discuss recent insights into genomic architecture and the emerging biology of disease. This year’s meeting will also highlight systems biology and modelling approaches, population studies and emerging tools and technologies. We will also discuss the use of genomics to drive therapeutics.

Programme

The conference will start at approximately 13:00 (BST) on Wednesday, 14 April and close at approximately 18:00 on Friday, 16 April 2021. All times are given in British Summer Time. See the time where you are here.

Topics will include:

  • Genetic architecture
  • Systems biology
  • Population studies
  • Modelling disease
  • Tools and Technologies
  • Using genomics to drive therapeutics

Registration

Virtual conference rate
Student50£
Delegates from LMICs*50£
Academic100£
Commercial150£

The virtual registration package includes: Access to all live-streamed sessions (including poster sessions and online networking channels), as well as access to all sessions ‘on-demand’ for four weeks after the event.

* To increase the international diversity of attendees at our meetings, we have reduced fees for delegates from Lower and Middle Income Countries (see list of countries here)

Log in details for the virtual conference portal will be provided on Monday before the event.

https://coursesandconferences.wellcomegenomecampus.org/our-events/genomics-of-brain-disorders-2021/

[PODCAST] Magdalena Plebanski, PhD: Ovarian Cancer Diagnosis

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PhD (Immunology), MBA (Business), DPS (Psychology), BScHon (Biomedicine). NHMRC Senior Research Fellow. Director of the Biomedical and Health Innovation Enabling Capability Platform (BHI-ECP) at RMIT University, one of the largest Universities in Australia, as well as Head of the Translational Immunology and Nanotechnology Laboratory at School of Health and Biomedical Sciences at RMIT. Interdisciplinary research leader in nanotechnology for biomedical innovation, leveraging exciting cross-disciplinary collaborations with engineers and clinicians to develop new approaches to promote human health.

Epigenetics 2021 – Online event

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The 2021 meeting of the Australian Epigenetics Alliance! This meeting will bring together Australian and international researchers in the field of epigenetics, and connect senior, emerging and early-career researchers. This year, the conference will focus on single-cell epigenetics, stem cells, epigenetics in immunity, environmental epigenetics, transgenerational and evolutionary epigenetics, integrative OMICs, epigenetic aging, and translational and clinical epigenetics.

Topics

  • Single-cell epigenetics
  • Epigenetics and stem cells
  • Epigenetics in immunity
  • Environmental epigenetics
  • Transgenerational epigenetics and DOHAD
  • Integrative OMICs (including epigenetics)
  • Epigenetic aging
  • Translational and clinical epigenetics

Program: ausepi21.epialliance.org.au/program

Web page: ausepi21.epialliance.org.au

IFCC Webinars – Live Series: Clinical Applications of Cardiac Biomarkers

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IFCC C-CB Appraisal of 2020 ESC Guidelines for the Management of Acute Coronary Syndromes in Patients Presenting Without Persistent ST-Segment Elevation: Getting Cardiac Troponin Right


January 29, 2021

The webinar will last 90 minutes.

Live presentations starting at 7:30 AM CST – Minnesota time; 2:30 PM CET – European time; 1:30 PM GMT – UK Time; 9:30 PM CST – Beijing Time.

  • Paul O. Collinson (UK): Implementing the guidelines evidence base and practical issues
  • Allan S. Jaffe (US): Rapid rule in and rule out When can we be rapid and when should we wait
  • Fred S. Apple (US): Getting it right high sensitivity cardiac troponin assays and other biomarkers: 99th percentiles and analytical considerations

Recorded webinar : available on demand

Certificate of Participation : available for all registrants

Register at: https://www.workcast.com/register?cpak=9816257845183365

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