People with rare genetic conditions and coronavirus

We have prepared a series of leaflets to support patients and carers during the COVID-19 pandemic. They provide general information about COVID-19, how to understand your risk,  the DoH shielding guidance, what to do if you are symptomatic and how to interact with carers coming into your home.

We hope the information and resources on this page will be helpful in your clinical practice.  Topics include taking and drawing a family tree, when and how to refer patients to the specialist genetic services,  where information about genetics conditions and their inheritance can be obtained, and information about genomic technologies.  Although we make every effort to ensure these links are accurate, up to date and relevant, BSGM cannot take responsibility for pages maintained by external providers.

Genetics and genomics in clinical practice

Some conditions are known to be inherited and follow Mendel's rules of inheritance.  Individuals and families with such  inherited conditions may benefit from precise diagnosis, information about their condition and how it is inherited, and genetic testing to find the precise cause of their condition. They may value support whilst they consider the implications for themselves and other family members, who may be identified through taking and documenting a family history.  Families with inherited conditions are seen in all specialties.  They may also be referred to the specialist genetic services.  A "genetic test" is often a targeted test, analysing a particular gene or group of genes thought to be likely to be associated with a medical condition, or examining chromosomes. The results of the genetic testing may suggest a specific therapy.

Advances in genomic technologies however have resulted in being able to read the entire sequence of a person's DNA, and then to interrogate this sequence to find alterations which might be associated with medical conditions (including Mendelian conditions), common traits or susceptibility to disease or reaction to particular groups of drugs.  Such assays produce an enormous amount of data for each individual which has to be analysed, and interpreted. Originally, sequencing an entire genome was carried out in research settings but several projects are assessing the value of adopting this technique into clinical service.  It  can be challenging to determine whether variants found through whole genome sequencing are clinically actionable. 

Genetic clinics

The United Kingdom has an internationally recognised excellence in the provision of clinical genetics and genomics services for patients. 

NHS services include both clinical consultations and laboratory investigations. There is an extensive network of clinics specialising in the diagnosis and management of genetic conditions, based in regional centres (shown in red on the map). Many centres also hold clinics in local communities. 

The laboratory services are currently undergoing reorganisation, so the information below shows where clinics are currently based. 

Referral to a genetics clinic is usually through a GP or hospital specialist.

The following clinics have not yet sent in their updated information:    
Dundee, Leicester, Liverpool, Manchester, Oxford