Recent UK government strategies (UK Industrial Strategy, Life Sciences Sector plan, NHS 10 year plan for England) have positioned genomics at the heart of health, science and industry.

The British Society for Genomic Medicine (BSGM) leadership has written a statement of support towards growth within genomic medicine and with a commitment to work closer with stakeholders, to ensure our entire UK population will benefit from these developments. You can read the BGSM statement here. 

Sept/Oct awareness dates

There are a number of health awareness dates in September and October linked to genetics and genomic testing. Below we have listed some of these, along with links to further information, as well as any associated test codes in the National Genomic Test Directory (R=rare, M=cancer, or with a reference to a group of tests in the e.g. Part IX). The list is not exhaustive, and we have focussed on conditions currently included in the NGTD.

For Rare and Inherited Conditions, see the Rare and Inherited eligibility criteria document on this page.

The Genomics Training Academy (GTAC) is pleased to offer ‘Collaborate: A Clinical Laboratory Education Initiative’. This recurring CPD webinar series aims to bring together the NHS’s specialist genomics workforce to address real clinical challenges.

The key aims of Collaborate are to support genomics professionals to:

• learn about genomic conditions and how they are diagnosed;

• understand the wider context of their roles within a clinical pathway;

• recognise and respect others’ contributions to the stages in the pathway; and

• build a community of interprofessional learning.

Collaborate is open to all NHS specialist genomic workforce groups, including genetic counsellors, clinical geneticists, and Genomic Laboratory Hub staff, at all career stages. Find out more.

• HEIs invited to bid for genomics pedagogy opportunity
• New tender opens to train bioinformaticians in Python

• New GeNotes specialty: Mental health launches

Genes & Health is the world's largest community-based study of genetics and health in British Bangladeshis and British Pakistanis. Their aim is to improve health in people from these communities through high quality scientific research. 

South Asian people have some of the highest rates of heart disease, diabetes and poor health in the UK. Lack of diversity in research makes it difficult to understand why South Asians are more at risk of these diseases and South Asians, Bangladeshi and Pakistani people are particularly underrepresented which is why this study focuses on these two groups. 

Volunteers aged 16 years and over are being sought for this study. If you are interested or know of someone who would be you can find out more here. 

Elaine Bickers PhD has created a video series for health professionals wanting to understand cancer biology better. In it, she introduces cells, DNA, genes, proteins, mutations, and many concepts that underpin the creation of new cancer treatments. To watch this series, as well as see Elaine’s other videos, please click here.

• Scientists create new AI tool to predict genetic risk for common hereditary diseases

• UCL and GOSH gene therapy for rare immunological condition ‘completely changes life’ for first teen patient

• Hundreds with rare inherited eye disease to benefit after NICE recommends treatment

• Genetic testing of IVF embryos helps women over 35 conceive faster

• Genetic Test Can Reveal Risk of Late-Life Depression

• NHS cleared to use AZ's Fasenra for rare autoimmune disease

A pancreatic cancer trial led from Addenbrooke’s Hospital, Cambridge, is piloting a new scheme intended to make clinical trials faster and more accessible for patients in line with the NHS 10-year plan.

The trial is investigating using immunotherapy as a precision medicine for people with pancreatic cancer, one of the hardest to treat forms of cancer.

The ‘Just in Time’ scheme run by the National Institute for Health and Care Research (NIHR), could reduce the time needed to set up a clinical trial from months to only days. If successful, the scheme could allow more patients to benefit from access to clinical trials at hospitals closer to home.

For the first time, the scheme is being piloted in the PemOla trial, a precision medicine study exploring a combination immunotherapy using pembrolizumab and olaparib to treat pancreatic cancers that have a large number of genetic changes.

The trial is being led by Dr Pippa Corrie, consultant medical oncologist at Addenbrooke’s Hospital and a researcher at the Department of Oncology, University of Cambridge. There is a central inbox for the trial that can be used to express an interest in joining: cuh.pemola@nhs.net. You can read more here.

Most research on genetic screening and precision oncology is based on individuals of European ancestry. Researchers applied NHS England's cancer variant prioritisation workflow to evaluate the performance of these approaches in ethnically and ancestrally diverse populations. The second aim of the study was to assess the representativeness of the 100,000 Genomes Project cancer cohort of the population of England.

Whole-genome sequencing data from patients with cancer recruited into the 100,000 Genomes Project between February 2015 and December 2018 were analysed. Clinical information, including tumour stage and grade, was gathered from the NHS England National Cancer Registration and Analysis Service. 

Patients with cancer types with fewer than five individuals, haematological cancers, childhood cancers, unknown primary carcinomas, patients with indeterminate sex, and patients missing somatic mutations in genes were excluded. To assess ethnicity representation in the 100,000 Genomes Project, researchers calculated the recruitment ratios for self-reported ethnicities for patients with cancer recruited to the 100,000 Genomes Project and patients with cancer in England. Researchers also analysed differences in classification rates for potentially pathogenic variants to assess ancestry-related differences in germline and somatic mutations of different ancestry groups. Read more here.

• Many high street health tests are unfit-for-purpose and need greater regulation, warn experts

• Scientists find way to reverse nerve damage in rare ALS form

• Genetic discovery gives hope to family of man paralysed by flu

• Pan-African partnership to deliver research and training excellence in genomics of kidney disease

• China's national genomics study establishes new rare disease diagnosis framework

• Possible genetic clues to ME/chronic fatigue syndrome identified in new study

• New funding brings personalized CRISPR cures closer to children with rare diseases

• Scientists discover eight new schizophrenia genes

• Identity development and adaptation in adolescents with genetic conditions: new study to develop strategies for optimizing clinical genetics services

• Blood matching test to be offered to patients with rare conditions

PhD students, postdocs, junior group leaders, clinicians of all grades, nursing and allied health professionals and others involved in all aspects of head and neck cancer research are invited to submit abstracts to be considered for a lightning talk and/or a poster presentation at the Cambridge Head and Neck Cancer Symposium which takes 

place on Thursday 25 September 2025. Abstracts can be submitted here, and you can register for the Symposium here.