Information for patients - Genetics

Genetics is the study of the way in which we share some features within our family, such as hair or eye colour, 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.

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 disorders
• 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.

You can ask your GP or your oncologist for a referral, or you can self-refer. In either case, you need to complete a family history form. It is important to fill this out as completely as you can, as this will help us make an accurate assessment of your risk and whether any additional screening or genetic testing is needed. If your family is already known to us for the family history of cancer, you can also self refer by contacting us.

Please see our leaflet about the cancer genetics service.

We would advise asking your GP or a specialist doctor for a referral if you are concerned about a family history other than cancer. If your relative has previously been seen by the Clinical Genetics department (for example, if there is a known gene alteration in your family) you may be able to self-refer. You are welcome to contact us and provide your relatives’ details.

Some people are referred because our specialist doctors may be useful in trying to make 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.

As long as the referral is appropriate, an appointment will be scheduled. We may write to you to ask you to call our booking line (0121 335 8024) to make an appointment or we may automatically book the next available appointment.  Some appointments are being held by video or over the telephone. Alternatively, your appointment may be at a hospital near your home. If your face-to-face appointment is with one of our genetic counsellors, you may be able to request that the appointment be changed to telephone or video by calling us.

If you need to be seen in a specific specialist clinic you may need to travel further, such as to Birmingham Women’s Hospital. 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 choices may be limited. If your appointment is with one of our genetic counsellors, you may be able to request that the appointment be changed to telephone or video by calling us. We sometimes ask you to bring a relative with you to the appointment. Consultations usually last around 45-60 minutes. Please have your diary or schedule with you when you call for your appointment.

The West Midlands Genetics Service serves a large and diverse population. To improve access to Clinical Genetics and provide tailored clinical care, we employ 2 specialist Genetic Counsellors and 2 specialist genomic practitioners who speak specific South Asian languages and are skilled in providing genetic counselling for these communities. They have an in depth understanding of family structures and can support families to understand how the service can be of benefit in providing them with information and choices in a culturally sensitive manner.

If you need an interpreter for your appointment, please contact us. The staff on the appointment line speak some additional languages or can arrange a telephone interpreter if required. If you prefer, you can ask a close relative, friend or health professional to telephone for you.

You are welcome to have a family member or friend present for support. They will sometimes need their own appointment if they wish to pursue testing for themselves.

Your appointment may be with one of our doctors (Clinical Geneticists) or with a Genetic Counsellor. Genetic Counsellors are health professionals with specialist training in providing information about genetic conditions, helping patients make their own decisions about genetic testing and supporting families with genetic conditions. As a Teaching Hospital Trust, we often have students, trainees or new staff members observing the appointment but please let us know if this is not acceptable.

Sometimes you may have an appointment with a genomic practitioner or associate before an appointment with a consultant or counsellor. Genomic practitioners have specific roles within our service including consenting patients for whole genome sequencing and more recently working with patients from ethnic minority backgrounds. Genomic associates are mostly involved in collecting information from patients before an appointment with a counsellor or doctor.

Your appointment may be face to face or it may be virtual or by telephone.

We are based at Birmingham Women’s Hospital and have some face-to-face clinics in a modular building called Lavender House next to the Birmingham Women’s Hospital (hyperlink to map of where to find us). There is a map below of the areas we cover. We have face-to-face clinics at district Hospitals across the West Midlands. If you have been offered an appointment at a district hospital, we have Genetics Clinic Locations Maps. 

We run our virtual clinics via phone or Zoom, so patients can have a consultation from the comfort of their home when suitable for their condition. These virtual clinics serve patients from all over the West Midlands. If your face-to-face appointment is with one of our genetic counsellors, you may be able to request that the appointment be changed to telephone or video by calling us.

We also run a number of specialist clinics at various locations. You can contact the department if you have a question about these specialist clinics.

 

We may contact you before the appointment to gather important information about your family so that a family tree (family pedigree) can be drawn. Someone may telephone you about this or send you a form to complete. To draw a family tree we may ask you about:

• Full names of family members
• Dates of birth (if possible)
• Information about pregnancies and health problems within the family

We may also ask you to get permission from a relative for us to obtain further information about their condition. If another relative has been seen in the genetics clinic before, either in the West Midlands or elsewhere, it would be helpful if you could let us know so we can have as much information as possible when we see you. We will never contact a relative or obtain medical records without permission.

The doctor or genetic counselor will discuss your family history and review the information about your health. Sometimes a Genetics Doctor will need to examine you or your child. They will then assess how likely it is that there is an inherited condition in your family and spend some time discussing your particular concerns and options. You may have specific questions you wish to ask. You are welcome to prepare these and bring a written copy when you attend.

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.

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. If there are further developments in the future, we may offer you another appointment. Sometimes referral to other specialist services is needed and your Genetic Counsellor or doctor will discuss this with you. We may also offer to see other family members if appropriate.

Your information may need to be shared with other medical professionals involved in your care this will be discussed with you at your appointment. Some of your information may be used for clinical audit, training/educating staff and, with your consent, for approved health research. This ensures that the quality of patient care is sustained and improved. If you would like to know more about how your information is used, please refer to our Trust’s Privacy Policy.

Some information about genetic conditions can be found on the internet and we have a short list of some reliable sites. However, we recommend that you wait until after your appointment so that we can recommend reliable sites appropriate and specific to you.