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  • BSGM response to CMO report

    posted on 10th July 2017  |  0 Comments  |  Not tagged.

    Posted from: BSGM

    The British Society of Genetic Medicine represents over 1800 professionals, including doctors, genetic counselors and laboratory scientists, working in the NHS, providing diagnosis, treatment and support to individuals and families affected by genetic and genomic conditions. This includes a network of clinical laboratories providing hundreds of thousands of genetic and genomic test results to patients with rare diseases and cancer every year to diagnose or predict these conditions and inform the selection of the most effective treatments or preventions. New genomic technologies, that have revolutionized genomic approaches over the past decade, are already in routine use by these laboratories.

    We are delighted that the Chief Medical Officer, Dame Sally Davies, has recognized the power of Genomic Medicine to make a significant difference to the well being of patients and their families in her Annual Report. The Report builds on the foundations laid by the network of Regional Genetics Services across the UK over the past decades, which have established an international reputation for the quality of the services provided within the NHS. These services have also catalysed novel research discoveries through the close working relationships between NHS and university departments in genomics.

    In order to capitalize on the opportunities afforded by Genomic Medicine, these Regional Genetic Services are well placed to transform practices across all branches of medicine, including general practice, so that both the potential and the limitations of genetic/genomic testing are appropriately realised. Whole genome sequencing, at the cost and speeds available today, is a remarkable technical achievement, yet to make a diagnosis or accurate prediction it needs to be interpreted in the context of accurate clinical information. The expertise to link the clinical information with sequence data is central to the skills of our professional members.

    Natural history studies, clinical trials and support for both health care professional and public education are also essential to continue to deliver a world class clinical service in genomic medicine. Whilst some laboratory functions are ripe for centralization, the role of existing regional laboratories working with clinical experts remains vital for the interpretation of complex genomic data. We welcome the CMO report and are willing and ready to help deliver genomic medicine to all areas of medical practice to meet the needs of all NHS patients.

    Prof William Newman on behalf of the British Society for Genetic Medicine

    Please click here for a PDF version of the report


  • Cancer Gene Panel Testing Meeting

    Cancer Gene Panel Testing Meeting

    posted on 17th May 2017  |  0 Comments  |  Not tagged.

    Posted from: CGG

    On the 8th May 2017, the clinical cancer genetics leads across the UK met to agree the set of genes with good evidence for being associated with breast, ovarian, colorectal cancer and polyposis syndromes.

    An agreement was reached about which genes clinicians would approve being testing for in clinical diagnostic labs.



     This meeting will be followed up by:

    - Compilation of a gene dossier for UKGTN for breast, ovarian and colorectal cancer/polyposis panel testing

    - CGG-produced pragmatic management suggestions for all genes included to facilitate consistency across the UK, whilst acknowledging local constraints and protocols

  • BSGM submission to the Science and Technology Committee inquiry

    posted on 18th April 2017  |  0 Comments  |  Not tagged.

    Posted from: BSGM

    The BSGM has made a submission to the Science and Technology Committee (Commons) inquiry on genomics and genome-editing. For more details about the scope of the inquiry and details of other submissions see -

    1. The British Society for Genetic Medicine (BSGM, ) is an independent umbrella organization encompassing the Clinical Genetics Society, Association for Clinical Genomic Science, Association of Genetic Nurses and Counsellors and the Cancer Genetics Group, thereby representing the views of approximately 1800 professionals who work as doctors, genetic counsellors, scientists and researchers in supporting families and individuals with genetic or genomic disorders. These professionals work to predict, diagnose, prevent and treat these disorders.

    2. The BSGM forms part of a network of specialist clinicians (known both as Clinical Geneticists and Consultants in Genomic Medicine) equipped to deliver genomic medicine in the NHS via 23 regional genetic services covering the entire United Kingdom. These NHS medical consultants working with genetic counsellors and diagnostic scientists provide:

    • A body of medical experts already familiar with genomic testing as part of clinical practice.

    • Expertise in the phenotyping and clinical diagnosis of rare and ultra rare genetic disorders.

    • Strategies to make and confirm the molecular diagnosis of rare diseases. • A family based service that spans prenatal care to old age medicine. • Clinics for the diagnosis, treatment and health screening of affected and at risk individuals.

    • Contributions to major research discoveries in genomics.

    3.The diagnosis of a genetic condition can impact not just on the individual tested but also on their family members. A genetic diagnosis is life-long and there is a major potential for risk and harm if we provide incorrect information. It is not the case that a genome sequence can be interpreted in isolation, or that inability to do is simply because bioinformatics analysis is not yet sufficiently advanced. Careful analysis of genomic variation together with clinical examination and family history interpretation is needed to provide useful information.

    4. The BSGM works with a number of agencies, including the Human Embryology and Fertilization Authority (HFEA), Medicines and Healthcare Regulation Authority (MHRA) the Nuffield Council on Bioethics, the NHS and Genomics England to provide expert advice about the appropriate regulation of genomic medicine. The BSGM does not see an immediate need for additional regulation in this area beyond that already planned or in place. Together with the above agencies, and other professional bodies and statutory authorities, including the National Data Guardian, we will continue to review the ethical issues raised through these technological advances. Any new regulation should be guided by the principles that apply to medical practice, ones that aim to maximize benefits and minimise harms whilst recognizing the importance of consent and confidentiality in any medical encounter.

    5. The BSGM is supportive of Genomic England's 100,000 Genomes Project providing whole genome sequencing for individuals with certain rare diseases, infectious diseases and cancer. The Project is facilitating new diagnoses where previous NHS testing was unavailable or was too limited to determine the underlying cause. It has already resulted in improvements in the genomic analysis of tumour samples through multidisciplinary approaches. The BSGM is confident that the bioresource created through the 100K project will provide opportunities for researchers and pharmaceutical companies to increase understanding of and strategies to deal with different health problems.

    6. Once recruitment to the 100,000 Genomes Project finishes (anticipated autumn 2018), it is vital that Genomic Medicine services are invested in through staff and laboratory infrastructure and training to enhance the delivery of genomic medicine. Effective services will also require a robust, secure infrastructure for storing and sharing relevant genomic and phenotypic data, as the ability to share these data is a key element of sequence variant interpretation, especially in rare genetic diseases. It is important to reinforce that whole genome sequencing is just one technique, albeit a very powerful one, that can be used to aid diagnosis and inform treatment decisions. Genomic laboratories need to be equipped with the range of platforms and skilled scientific staff, supported by integrated informatics systems, to provide a full repertoire of genomic tests to meet the needs of patients in all areas of medicine.

    7. BSGM encourages the mainstreaming of genomic medicine into all specialties and general practice and strongly believes that regional genetic services will retain an important role in meeting the increasing demands in this area. For example, in leading the training of other healthcare professionals in the application of genomic medicine. This will require sustained investment in these existing services to ensure that the NHS is in place to deliver the safe, equitable and effective care that patients require and deserve.

    References. 1. Ribeil JA, Hacein-Bey-Abina S, Payen E, et al. Gene Therapy in a Patient with Sickle Cell Disease. N Engl J Med. 2017 Mar 2;376(9):848-855. 2. Baldridge D, Heeley J, Vineyard M, et al. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med. 2017 Mar 2. doi: 10.1038/gim.2016.224

  • BSGM support of ASHG response to new workplace

    posted on 5th April 2017  |  0 Comments  |  Not tagged.

    Posted from: BSGM

    The British Society for Genetic Medicine (BSGM) supports the recent stance taken by the American Society of Human Genetics (ASHG) in cautioning against the use of legislation that might place employees under pressure to undergo genetic testing or to disclose the results of any such testing to their employers. Genetic testing can have a valuable role in health care in certain situations, for example, by identifying individuals at risk of inherited conditions, or reassuring individuals that they have not inherited a condition that has affected other family members. Such testing can suggest appropriate surveillance or treatment for individuals at increased risk. The BSGM therefore opposes legislative changes that might dissuade individuals from undergoing appropriate testing through fear that this information may be used to discriminate against them, including through increased premiums or denying access to insurance. On the other hand, many genetic tests will not predict future ill health accurately, and mandating such tests as part of, for example, a pre-employment check, could lead to discrimination if the results are given more credibility than there is evidence for. BSGM believes that genetic testing to predict future ill health should only be undertaken where individuals receive appropriate support and information and are free to choose without fear of previous result disclosure, or new testing, being used to decide insurance premiums or to discriminate against them in any other form. Read More...
  • A few places still available on the Manchester Dysmorphology Course 2017

    posted on 14th March 2017  |  0 Comments  |  Not tagged.

    Posted from: CGS

    This highly recommended course is intended mainly for doctors in training in Clinical Genetics or newly appointed consultants and will consist of lectures, interactive and case-based teaching covering common and emerging dysmorphic syndromes and diagnostic approaches. 

    For more details, visit the events page