There are a number of different situations that might lead you to book a Genetic Counselling consultation.
- If there has previously been a diagnosis of a known genetic condition in a member of your family
- If you or your partner is personally affected with a genetic condition
- If your child who has been diagnosed with a genetic condition
- If you have lost one or more pregnancies as a result of a genetic condition
In any of these situations, our Genetic Counsellor can offer a consultation to discuss the risk of the genetic condition occurring again in the next generation, and if so, what genetic tests are available.
In many cases, genetic tests will be for healthy carrier status (eg. recessive genes, genes on the X-chromosome, or hereditary rearrangements of the chromosomes). When a carrier of one of these types of genetic conditions is identified, the main implications will be with regard to having a healthy child, and our Genetic Counsellor can provide information regarding options for achieving this.
In some situations the person carrying a familial gene mutation will also be at risk of health problems themselves. If this is the case, our Genetic Counsellor will discuss onward referral to specialist doctors to monitor your future health.
Our Consultant Genetic Counsellor
She started her career in cancer genetics research projects before moving into clinical work. From 1999 Sara worked with cancer families as well as families affected by a wide range of other genetic conditions. From 2005 – 2009 she led the development of a carrier screening programme for recessive disorders in the UK Jewish population. Concurrently, she joined the Assisted Conception Unit at Guy’s Hospital to provide PGD for patients with a range of genetic disorders. Sara became a Principal Genetic Counsellor at Guy’s in 2009.
Sara joined CRGH in 2017, and leads on the genetics aspects of the PGD service, genetic counselling, and CarrierMatch™ screening, and is part of the clinical team further developing the genetics programme at the centre.
In addition, Sara is the elected chair of the AGNC, the national body which represents Genetic Counsellors in the UK and Ireland. The AGNC provides representation, education and support to Genetic Counsellors. In her role as chair, Sara aims to champion the integration of Genetic Counsellors into mainstream settings, as Genomic testing is rolled out across all medical specialties.
Sara is also a passionate member of the medical advisory boards of two patient support charities.
Undiagnosed complex health problems that may be ‘genetic’.
If you or a member of your family has complex health problems that are yet to be give a formal name or diagnosis, you would benefit from a fuller medical assessment from a ‘Clinical Geneticist’ (a doctor specialising in Genetics). At this time we are not offering a diagnostic service for these types of situations.
Common conditions with a genetic risk
There are a number of common health problems that have a genetic component that influences risk. For example cancer, heart disease, and mental health problems. At this time we are not offering a family history assessment service for these types of situations.