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What is Clinical Genetics?

Clinical Genetics is the medical specialty which provides a diagnostic service and "genetic counselling" for individuals or families with, or at risk of, conditions which may have a genetic basis. Genetic disorders can affect any body system and any age group. The aim of Genetic Services is to help those affected by, or at risk of, a genetic disorder to live and reproduce as normally as possible. Genetic disorders include :

  • Chromosomal abnormalities, which cause birth defects, mental retardation and/or reproductive problems.
  • Single gene disorders such as cystic fibrosis, muscular dystrophy, Huntington's disease and sickle cell disease.
  • Familial cancer and cancer-prone syndromes such as inherited breast or colorectal cancer and neurofibromatosis.
  • Birth defects with a genetic component such as neural tube defects and cleft lip and palate.

In addition a large number of individuals with birth defects and/or learning disabilities are referred and investigated for genetic factors. Individuals identified through childhood or pregnancy screening programmes also require genetic services. In the future, as the genetic contributions to common later-onset disorders such as diabetes and coronary heart disease are identified, genetic services may be required for those at high risk. Testing for genetic factors that affect drug prescribing will also increasingly become an important activity.

  • What are Regional Genetics Services?

    Specialist genetic services have developed in the UK largely as regional centres of expertise. All support the network of Regional Genetics Centres and the need for close functional interaction between centres and between elements of the service within an individual centre. Specialist genetic services can be distinguished from other medical services by the fact that they deal with families, often over several generations, and that they can provide genetic expertise for any age group affected by, or at risk of, disorders in any body system.

    The clinical team includes Clinical Geneticists (medical doctors who increasingly may have subspecialty expertise), junior doctors in training, Genetic Counsellors (sometimes referred to as specialist genetic nurses, genetic associates or genetic co-workers) and, in some centres, genetic family register staff. Services are delivered in clinics in the regional centre, in outreach clinics in district general hospitals, in ward or hospital department consultations and in visits to the families' homes.

    Following referral to a consultant, a genetic counsellor may make contact with the family to collect background information and in some circumstances will also provide "genetic counselling" at the hospital or in the home. For most patients, a clinic appointment with a clinical geneticist is then organised (and any follow up appointments as necessary) to allow examination, investigations, diagnosis and further management. A detailed summary letter is sent to the family and to hospital and primary care doctors. In some situations the genetic counsellor maintains long-term contact with the family. Services are offered to the extended family as necessary.

  • I've been referred to a Genetics clinic; what can I expect?

    Most people's appointments will have been made by a doctor who felt that particular questions needed answering, which required the expertise of a Clinical Geneticist - a medical doctor who specialises in Genetics. Typical reasons for being seen include:

    • A person with a genetic condition in the family wanting to know the risks to themselves or their children
    • A person worried about a family history of cancer, who wants to know whether or not they are at increased risk, and to discuss their options
    • Parents of a child with medical or learning difficulties where a genetic condition may be present, wanting an expert assessment

    In some cases, a specially trained person who is not a doctor (called a Genetic Counsellor, Genetic Associate, or Genetic Nurse) may see you before your appointment with the doctor.

    Most Genetics appointments are 45 to 60 minutes long, so you should not feel rushed. Several relatives may attend an appointment together, if they wish. The details of your appointment will vary depending on the exact reason for which you are being seen. The following often occur:

    • The problem that has brought you to the clinic will be discussed in detail
    • A family tree may be drawn, and medical details of relatives may be asked about (such as the cause and age of their death). It is useful to have found out these details before you come to the clinic, or bring a relative who will know
    • A medical examination may be carried out on one or several family members
    • Photographs may be taken to document certain features for the medical record
    • The doctor will explain their findings to you, and discuss all the options
    • You will be encouraged to ask questions, and to make your own decisions. The doctor will help you with this, but will not tell you what to decide
    • In some situations, tests (such as blood tests) may be offered. Some tests are available on the day, but often you will be asked to take some time to make a decision, and come back another day. Results often take several months to come back.

    At the end of the appointment a plan may be made for further information gathering (by you or the doctor), special tests, or another appointment. Afterwards you will be sent a letter going over what was discussed in the appointment. If anything in this is unclear, you should contact the clinic again.

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  • Fundamentals in Clinical Genomics 2018

    posted 22nd November 2017  |  0 Comments

    As a Consultant or Trainee in Clinical Genetics, are you feeling confident about genomics, variant interpretation, ACMG variant classification and missense constraint? If brushing up on these and similar topics would lift your clinical practice and prepare you for using WGS data in your clinical practice, why not come along to the Fundamentals of Clinical Genomics course at Hinxton in Jan 2018.

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