Public, patients, families

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.

Information for the public, people with genetic conditions and their families

Thank you for visiting our site.
The BSGM is not able to provide information on specific genetic conditions, nor can we give medical advice to individuals. However, we have provided a list of organisations who may be able to help with information and support.

Sometimes we are asked why people might benefit from being referred to a genetic clinic.

There are many reasons why people may be referred to a genetics clinic. They include:

  • A person with a known genetic condition in the family, wanting to know the risks to themselves and/or their children

  • Parents of a child with difficulties which may be due to a genetic condition, referred to see if a diagnosis can be made.

  • A person with a strong family history of cancer, wanting to know if they are at increased risk, and if they are what options they have.

  • A person with a known genetic condition wanting specialist advice about the condition .

  • A person with a possible genetic condition in the family wanting to know if a diagnosis can be made, and if so, their risks and options.

  • A pregnant couple told that a test has given an unexpected result, wanting to talk about what the result means, and what options are available.

If you feel that you need a Genetics Consultation in the UK, please contact your family doctor (GP) or, if you are being seen in a hospital speak to your specialist, who will be able to refer you to your Regional Genetics Service, many of whom hold clinics in local communities.

If you are referred to a genetics clinic, what is likely to happen?

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 genetics team.  Clinical genetics teams include clinical geneticists  (medical doctors who specialise in genetics) and genetic or genomic counsellors (sometimes also called genetic associates) also with special expertise in genetics. You may be contacted before the clinic appointment for more information about the reason you have been referred; this may include being asked to give a family history. 

Most genetic 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, but it will often include: ·

The problem that has brought you to the clinic will be discussed in detail. ·
A family tree will be drawn, (if not drawn up beforehand) 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. ·
The doctor/counsellor 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. ·
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 with details of what was discussed in the appointment. If anything in this is unclear, you should contact the clinic again

You may be offered the opportunity to take part in research projects.  Here is some information. 

During your clinical appointment you will likely be asked if you would like to participate in research.
This is because, the findings from any genetic testing you may have will often make more sense if they are compared with those from other people.

There is a lot of variation in our genetic code, and for much of the variation we cannot tell if it leads to disease without comparing it with others and their states of health. Your data will not be linked to your name or address for this type of research, but it will not be anonymised completely because we might need to link it back to you.

At other times you may be asked to take  part in a specific research project - perhaps related to your particular condition or the question that brought you to the appointment. In this case you will be told about the details of the study and whether you might hear anything back, or whether the research is unlikely to have any clinical benefits for you.

All research studies that are offered to patients within the NHS have been through a checking process to ensure the way the samples and data are used are ethical, that all data is stored securely, and that access to this data is highly regulated. You should ask any questions and make sure you know what will happen to your sample and the data collected from it

The Association of British Insurers has answered questions about genetics and insurance, including the use and disclosure of the results of genetic tests obtained not only through clinical services but also through research studies.