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  • 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

  • Genomics of Rare Disease- Deadlines Approaching

    Genomics of Rare Disease- Deadlines Approaching

    posted on 1st February 2017  |  0 Comments  |  Tagged: genomics,meetings

    Posted from: CGS

    The Genomics of Rare Diseases Meeting will take place on the 5th-7th April 2017. This year's theme is 'Discovery and Care'; we aim to explore how cutting-edge genomic research translates into clinical care and informs our understanding of the biology of rare disease. Important dates for your diary:

    Bursary Deadline: 1st February

    Abstract Deadline: 8th February

    Registration Deadline: 8th March

    Visit the event webpage for more details.

  • Consent and Confidentiality

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

    Posted from: BSGM

    Looking for volunteers to update guidance