Reprogenetic News Roundup #6

The UK Biobank.

Highlights from this week’s edition:

• Repro/genetic Policy & Practice

  • UK Biobank makes 500,000 human genomes accessible to researchers

  • Global Preimplantation Genetic Testing (PGT) market forecast to grow 9% per year, reaching $1420 million by 2032

  • Deccan Chronicle (India) interviews fertility consultants on benefits of IVF and PGT amidst declining fertility

  • 10 ways AI is supporting fertility

• Polygenic risk scoring (PRS): Ashkenazi women and breast cancer, black men and prostate cancer, colorectal cancer, possible ineffectiveness for prevention

• Genome-wide associate studies (GWAS): Parkinson’s, postpartum depression, height, eating disorders, effectiveness in admixed populations, schizophrenia

Repro/genetics Policy & Practice

“World’s biggest set of human genome sequences opens to scientists” (Nature)

• The UK Biobank — a repository of health, genomic and other biological data — has released complete genome sequences from 500,000 British volunteers.

• Researchers around the world can apply for access to the data, which lack identifiable details, and use them to probe the genetic basis for health and disease.

• In 2021, UK Biobank released whole genomes from 200,000 participants.

• The $250-million effort was funded by the biomedical-research funder Wellcome, the British government and several pharmaceutical companies. The companies got access to the data nine months before their wider release.

• Researchers want access to even more sequenced genomes, millions, to map out associations between rare gene variants and health.

• The All of Us study, funded by the U.S. government, plans to eventually release whole genome and health data from one million or more people. The effort has released 250,000 genomes so far.

• The UK Biobank has already given rise to more than 9,000 publications.

“Growing number of fertility clinics offering preimplantation genetic testing services expands access to genetic testing” (Yahoo!Finance)

• Research and Markets has issued estimates for the global Preimplantation Genetic Testing (PGT) market. It is forecast to have a compound annual growth rate of over 8% in the coming years, reaching a value of $890.5 million by 2028.

• Key drivers of growth include rising incidence of genetic disorders, advances in genetic screening technologies, and increasing demand for IVF.

• PGT is relatively new and the market suffers from limited access and low awareness in many regions.

• Europe leads the global PGT market due to well-developed healthcare systems, advanced medical facilities, and regulatory frameworks governing assisted reproductive technologies and genetic testing.

• Fact.MR issued a similar report predicting 9% annual growth and a value of $1420 million for the global PGT market by 2032.

Fertility consultant recommends IVF and preimplantation genetic testing to help ageing Indians conceive (Deccan Chronicle, India)

• Doctors at the Fertility Conference in Vijayawada (Andhra Pradesh, India) noted that India’s fertility rate had fallen to 2.3, and as low as 1.7 in Andhra Pradesh.

• Dr. Sree Lakshmi Atluri, a fertility consultant, said, that 1 in 6 couples now find it difficult to conceive, mainly due to late marriage and changes in lifestyle.

• He advised the use of IVF and PGT to prevent “miscarriages due to genetic causes” and “birth of a child with a serious genetic condition.”

More on repro/genetics:

• “Top 10 AI-integrated solutions transforming the fertility landscape” (Express Computer)

• “What is non-invasive Preimplantation Genetic Testing (niPGT)?” (ESCO Medical)

• “The role of genetic analysis of products of conception and preimplantation genetic testing in the management of early pregnancy loss” (Reproductive BioMedicine Online)

• “Robust preimplantation genetic testing of the common F8 Inv22 pathogenic variant of severe hemophilia A” (Thrombosis Journal)

• “The role of preimplantation genetic testing in fertility treatment” (Punch, Nigeria)

Genetic Studies

Polygenic risk scoring (PRS)

• “Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel” (Journal of Medical Genetics)

  • Finds that European-derived PRS models for breast cancer can be used for Ashkenazi Jewish women.

  • The authors call for more genotyping of Israeli women to increase accuracy, including of Israel’s non-Ashkenazi ethnic groups.

• “Polygenic risk score modifies prostate cancer risk of pathogenic variants in men of African ancestry” (Uro Today)

• “Study suggests genetic scores ineffective in disease prevention” (India Education Diary)

• “High polygenic risk score is a risk factor associated with colorectal cancer based on data from the UK Biobank” (PLOS ONE)

Genome-wide associate studies (GWAS)

• “Genetics of Parkinson’s disease heterogeneity: A genome-wide association study of clinical subtypes” (Parkinsonism & Related Disorders)

• “A benchmark study on current GWAS models in admixed populations” (Briefings in Bioinformatics)

• “The first large GWAS meta-analysis for postpartum depression” (American Journal of Psychiatry)

• “Whole genome association testing in 333,100 individuals across three biobanks identifies rare non-coding single variant and genomic aggregate associations with height” (bioRxiv)

• “Genetic and environmental factors influencing the risk and course of eating disorders” (Karolinska Institutet)

• “Genetically predicted plasma levels of amino acids and metabolic dysfunction-associated fatty liver disease risk: a Mendelian randomization study” (BMC Medicine)

• “Dynamic regulatory elements in single-cell multimodal data implicate key immune cell states enriched for autoimmune disease heritability” (Nature Genetics)

More on genetics:

• “Is schizophrenia hereditary? Genetic and environmental causes” (Very Well Health)

  • Studies suggest schizophrenia is 60-80% heritable, but environmental factors such as trauma, isolation, and migration can increase risk.

Further Learning

“Feline evolution: how house cats and humans domesticated each other” (Genetic Literacy Project)

Disclaimer: The Genetic Choice Project makes every effort to include only reputable and relevant news, studies, and analysis on reprogenetics. We cannot fact-check the linked-to stories and studies, nor do the views expressed necessarily reflect those of the Genetic Choice Project.