CONFERENCE PROGRAMME

1. GENE EDITING

SESSION 1: Somatic and germline genome editing – successes and challenges, technical advances and current status
DATE: 30th March 2022
TIME: 09:00 – 11:30 SAST (UTC +2)

The 2020 Nobel Prize for Chemistry was awarded for the discovery of CRISPR-Cas9 technology that revolutionized human genome editing. This session will bring together experts at the forefront of genome editing to share an overview of the latest updates and to provide insights into the potential impact of the technology. CRISPR technology has opened up powerful possibilities for disease diagnosis and alternate therapies, and this session will highlight successes and challenges including results on current clinical trials using CRISPR-based treatments. Technological advances to reduce off-target effects and optimize specificity and efficacy using base and prime editing approaches will be discussed. We will also explore the current status of clinical trials and the technical, regulatory and ethical challenges in bringing gene editing to mainstream clinical practice. Finally, we invite our global participants to weigh in on these areas of discussion in the Q&A session following the speakers’ presentations.

2. DATA SHARING

SESSION 2: FAIR and global genomic data sharing
DATE: 30th March 2022
TIME: 15:00 – 17:30 SAST (UTC +2)

In this session, we will hear from speakers about their experiences in several large data sharing consortia. In the first talk, the speaker will lay out the “FAIR” (findable, accessible, interoperable and reusable) data sharing principles, providing a broad sense of the technical and logistical challenges that occur in doing international genomic data sharing. Examples will include the need for data harmonization and challenges in doing so, ontology development, and Application Programming Interface (API) development. There will be a brief summary of potential social, ethical and legal issues that arise in data sharing. The second speaker will summarize different design choices that influence the logistics of data sharing, as well as the privacy implications. This will be followed by presentations on Global Alliance for Genomics and Health (GA4GH) driver projects, demonstrating successes in data sharing approaches. Overall, the talks will provide context that is useful for clinicians, researchers and those considering the ethical and regulatory issues. This session will provide a foundation for further discussion on privacy, consent and data sharing in the international community at the ICHG 2023 meeting.

3. POLYGENIC RISK SCORES

SESSION 3: Polygenic Risk Scores – from methodology to clinical application
DATE: 31st March 2022
TIME: 09:00 – 11:30 SAST (UTC +2)

The new era in genetic studies, brought forward by recent developments in microarray and sequencing technologies, enabled an exponential growth of studies for human phenotypes from diverse ethnicities and populations. In the past decade, genome-wide association studies described contribution of genetic variability to whole range of human diseases and have led to active methodological development and implementations of polygenic risk scores (PRSs) for prediction of a wide range of conditions with heritable component. What is obvious however is that the PRS methodologies are not easily transferable between populations and ethnicities, especially those less well represented in large-scale genome studies.

An international meeting, such as the ISHG, provides an opportunity to engage with this topic and understand the progress made in development of PRS to be applicable to variety of populations, while also engaging with the application of PRS to a wider range of clinical applications.

4. TELOMERE TO TELOMERE

SESSION 4: The human genome: finally complete
DATE: 31st March 2022
TIME: 15:00 – 17:30 SAST (UTC +2)

The first draft sequence of the human genome was published in 2001. Although covering the entire human genome and nearly all known genes, it was not truly ‘complete’ and had many gaps, sequences for which the orientation was not known and sequences which could not yet be positioned precisely. In the years to follow, new genome builds were released, gradually making the genome more complete. In December 2013 development stopped with the current genome build GRCh38/hg38. Since then it has been repeatedly ‘patched’, but it still missed some 5 to 10% of the genome. New technologies were required to solve the remaining problems, mainly caused by large segmental duplications and highly repetitive sequences (telomeres, centromeres, ribosomal DNA genes). Using Pacific Biosciences and Oxford Nanopore long-read single molecule sequencing technologies, and BioNanoGenomics optical mapping, the Telomere-to-Telomere (T2T) consortium recently reported having completed the genome, publishing “The complete sequence of a human genome”(Nurk et al. (2021), bioRxiv, doi.org/10.1101/2021.05.26.445798). In this session we will hear how the T2T consortium was able to get the job done, see which hidden secrets the complete genome revealed, and learn about the advantages of using a complete human genome as a reference sequence in diagnostic applications (WES/WGS).