Who might need our services?
Patients
We accept self referrals directly from patients. The type of patients we typically see are listed below.
An affected person.
You may have a confirmed diagnosis of an inhertied cardiac condition such as cardiomyopathy. Diagnostic genetic testing to look for the underlying genetic cause of the condition can be arranged with results typically available in a matter of weeks
A relative of an affected person.
Perhaps your close relative has been diagnosed with an inherited cardiac condition and you would like genetic testing to see if you are at risk of the same condition? A type of testing called ‘predictive testing’ can be discussed and arranged
Clinicians
Would your patient benefit from genetic counselling and genetic testing but the patient doesn’t quite meeting the strict NHS criteria?
Currently, referrals are accepted for adult patients who require a diagnostic panel test for a confirmed or suspected history of cardiomyopathy, inherited arrhythmia, or SADS.
We also accepted referrals for single gene tests and referrals for cascade testing in relatives. WGS sequencing is currently not available, but may become available in the future.
If your patient is a child, please contact us for further guidance.
Patients are typically seen within 7 to 14 days from the date of the referral and where genetic testing is arranged, results are ready in a matter of weeks
What is genetic counselling?
Genetic counsellors are highly trained healthcare professionals who specialise in the assesment of genetic risk. A registered genetic counsellor will have undergone several years of intense training and would usually have obtained a Masters degree in genetic/genomic counselling.
In the UK, genetic counsellors mainly work in an NHS setting either within a regional genetics service, or within a specialist team such as cardiology, oncology or neurology. Due to overwhelming demand, NHS patients are now often facing very long waiting times to be seen by a genetic counsellor.
The role of a genetic counsellor is to assess the likelihood that a person or family is at risk of a genetic condition through assesment of the family history and in some cases, the use of genetic testing.
Genetic counselling involves all of the practical elements of taking a history, arranging genetic testing, and giving results, but it also includes many additional (and often overlooked) factors such as discussing the psychosocial impact of a genetic diagnosis, signposting for further support, and advice around matters such as the potential impact on insurance, future careers, and family planning.
What should I expect in my genetic counselling consultation?
Genetic counselling consultations take place online, and will typically last 45-60 minutes.
In this time we will:
Find out more about you and your concerns
Take a detailed three-generation family history
Ask you about your personal or family history of cardiac conditions
Assess the likelihood of an inhertied cardiac condition being present in you or your family
Discuss the option of genetic testing giving a full explanation of the benefits and limitations of testing, the type of results that might be returned, and what each of these results would mean for you and your family
Follow up consultations to discuss the result of genetic testing are also available
Genetic Testing
If deemed appropriate, genetic testing can be organised for you. The aim of this test may be to try and identify an underlying genetic cause for your personal or family history of cardiac conditions, or it may be a targeted test looking for the altered gene already found in a relative.
Genetic testing takes place on DNA obtained, usually via a cheek swab. Testing is carried out in a range of fullt accredited, specialist genetic laboratories. The result will often be ready a matter of weeks.
Genetic testing can be a complicated process and the results can be difficult to understand. A trained expert (such as a genetic counsellor) is required to give a full explanation of the benefits and limitations of testing, and the possible results. The potential impications of testing on factors such as family planning, insurance, and future career options can also be discussed.
If a significant finding is uncovered during the genetic test, advice will be given regarding the proper management of the affected person and their family members.