BSGM submission to the Science and Technology Committee inquiry
posted on Tuesday, 18th April 2017 | Not tagged.
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
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
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