Information for patients

As long as the referral is appropriate, an appointment will be scheduled. Currently many appointments are being held virtually by video or over the telephone. Alternatively, your appointment may be at a hospital or clinic near to your home. If you need to be seen in a specific specialist clinic you may need to travel further. Your appointment letter should state clearly whether your appointment is face to face, telephone or video. We will try to arrange the appointment for a clinic date and time convenient to you. We only have clinics on particular days of the month in many locations so, sometimes, choices will be limited. We will sometimes ask you to bring a relative with you to the appointment. Consultations usually last around 45-60 minutes.

Appointments

Your care within the clinical genetics department will depend on your particular circumstances and whether there is a clear diagnosis in you or your family members. You may be seen by a genetic counsellor or a specialist genetic doctor (Clinical Geneticist) and may need one or several appointments.

First contact

The initial contact may be with a genetic counsellor or a genomic practitioner. You will either get a telephone call or receive an appointment by post for you to come straight to the clinic. In this appointment you will be able to tell us your view of the referral and what questions you would like us to try and answer.

To help to give you accurate information and decide the next steps for your care there will also be a detailed discussion about any relevant medical and family history.

We may ask you some details about your close relatives to help us with a diagnosis. These details include:

  • their full name
  • their date of birth
  • their address

If appropriate, it may also be helpful to know:

  • if they have been given a diagnosis of a genetic condition
  • if so, when and where they were diagnosed or treated

Please note that we will not contact any of your relatives directly without you having discussed this with them first and will not ask for the medical records of relatives without their permission.

After the appointment / Further appointments

An appointment with a specialist genetic doctor is always needed if a medical examination is required to try to make a diagnosis of a genetic condition. At this appointment the doctor will review the information you gave in the initial appointment, and they may ask to examine you. Sometimes it is necessary for the doctor to gather more information or to arrange tests.

After the appointment the Genetic Counsellor or Doctor will usually write to you summarising the information you have been given and/or give you a detailed information leaflet. Usually only one or two clinic appointments are needed. However, some people may need to be seen again to discuss results or for follow up. We may also offer to see other family members if appropriate.

Testing

Testing

If genetic testing can be offered, we may need to take a blood sample at your appointment or ask you to have a sample taken after the appointment. Some conditions may need more than one appointment before a blood sample is taken for genetic testing especially if having a predictive test. Predictive testing is when you are considering being tested for a condition previously diagnosed in your family that may develop in the future. Sometimes a saliva sample can be taken instead, but not for all tests. If this or other tests are needed, we will discuss this with you, ask for your consent and then make the arrangements. Before any procedure or test is carried out you must give your permission. This is giving your consent. Genetic tests are often complex and the results can take several weeks or months. As genetics is a developing branch of medicine it is not yet possible to offer genetic testing for all conditions.

Tests we may offer include:

  • Carrier testing
  • Diagnostic testing
  • Pre-symptomatic or predictive testing
  • Pre-natal diagnosis

There are different ways to look at the genetic information, depending on what you are looking for. Your clinician might talk to you about

  • Chromosome tests (microarray or karyotype)
  • Molecular testing for one gene, or a panel of genes
  • Whole genome sequencing (WGS)

 

Whole genome sequencing

Whole Genome Sequencing (WGS) is a relatively new technology that looks at an individual’s genetic information. It is a detailed test that can be used to look for the genetic cause of someone’s health problems.

If you or a family member have been offered a WGS test you may find the following information useful:

WGS patient information   WGS-Patient-Information-for-Rare-Disease.pdf [pdf] 497KB

WGS patient information (easy read version)  WGS Patient information leaflet easy read.pdf [pdf] 2MB

WGS and research patient information  Patient_Information_Research_V1.4.pdf [pdf] 207KB

 

Learn more about genome sequencing in these videos produced by Great Ormond Street Hospital

https://www.youtube.com/watch?v=sn3_FlEbe0U

https://www.youtube.com/watch?v=1hZIgq9aW0A

 

FAQ's (Frequently Asked Questions)

What is Genetics?

Genetics is the study of the way in which we share some features within our family, and how we pass some of these on to our children. Sometimes conditions, which can affect our health, are also passed on through our genes. Clinical Genetics looks at how these inherited conditions are passed on in families.

What happens in the Clinical Genetics Service?

  • Doctors and Genetic Counsellors give people information about these conditions and how they are inherited. We can discuss:
    • The diagnosis, cause and treatment of genetic conditions
    • How likely they are to happen in a family
    • The choices members of the family have
    • The possible effects on the family and support available
    • Options regarding pregnancy and reproduction
  • We aim to give information which may help you to make your own decisions.

What is Genetic Counselling?

Genetic counselling appointments will provide information about genetic conditions, and discuss any options available to individuals and their families in a non-directive way. You will not be advised on what you should or should not do but these appointments will facilitate you to make the best decisions for your own particular situation. It is not a therapeutic counselling service.

How do I get referred to the Clinical Genetics department?

We would advise asking your GP or a specialist doctor for a referral if you are concerned about a family history of a cancer or medical condition. If your relative has previously been seen by the Clinical Genetics department (for example, if there is a known gene alteration in your family) please include this information in your referral request.

Why have I been referred?

Some people are referred because our specialist doctors may be useful in making a diagnosis in their family. We also see families to discuss the implications of a genetic condition, which is already known to run in the family.

I need an interpreter, what should I do?

If you need an interpreter for your appointment, please let us know by calling on 0115 962 7728. Some of our staff speak some additional languages or can arrange an interpreter if required.

Can I bring someone along to my appointment?

Yes, you can bring a support person along to any of your genetics appointments, whether they are virtual or face-to-face. However, they will sometimes need their own appointment if they wish to pursue testing for themselves.

Patient information and leaflets

You may be given an information leaflet in your appointment to help explain the genetic condition which is being discussed.  Many of these leaflets also include details of patient support groups and sources of more information and are reviewed regularly by our team.

A list of leaflets currently available can be found here.

Additional Resources for Families

NottAlone

https://nottalone.org.uk/

Local mental health advice and help for young people in Nottingham and Nottinghamshire. If you are aged under 25, are a parent or carer, or a professional that supports young people, you can find information, advice and where to go to get help locally.

 

Nottingham Children’s Hospital Community Paediatric leaflets

www.nuh.nhs.uk/childrens-leaflets?smbfolder=964

  • Help for Having a Healthy Headspace: concerns about a child or young person’s mental health or emotions.
  • Leaflets on ADHD, Autism Spectrum Disorder, Tics/Tourette’s
  • Sleep difficulties, and common medical concerns like constipation etc.

 

Nottingham CITY: Ask Lion

www.asklion.co.uk    

Excellent and easy to use site with information about organisations and services in the City of Nottingham. Where to get help with health, finances, housing, Special Educational Needs and Disabilities (SEND), support groups, and things to do.

 

Nottinghamshire COUNTY: Notts Help Yourself

www.nottshelpyourself.org.uk  

Excellent and easy to use site with information about organisations and services in the County. Where to get help with health, finances, housing, Special Educational Needs and Disabilities (SEND), support groups, and things to do.

 

Ask us Nottinghamshire

https://askusnotts.org.uk  

Tel: 0115 804 1740 enquiries@askusnotts.org.uk

Impartial information, advice and support for parents / carers about Education and Special Educational Needs (SEND) from 0 - 25 years.

 

Health For Teens

https://www.healthforteens.co.uk/

Website designed for teenagers that covers everything from relationships and sexual health to school to mental health to lifestyle.  It also has extra sections for those in Leicestershire and Nottinghamshire. 

 

Health For Kids

Has a section for adults (grown-ups) and a section for children.  Has information and advice about health worries in children  as well as extra sections for those living in the Nottingham area www.healthforkids.co.uk  and www.healthforkids.co.uk/grownups/  

 

Medicines For Children

www.medicinesforchildren.org.uk

Information for parents and young people about medicines, side effects, and other important useful information.  Type in the name of the medicine or type of medicine to find the one you are looking for.  Includes drugs for epilepsy, ADHD etc but also how to give medicines like tablets, drops, sprays etc.