Paediatric clinical genetics is a medical specialty that focuses on the diagnosis and management of genetic disorders in children.
At BICP we are proud to be able to offer a in house clinical genetic service delivered by a consultant geneticist for clinical interpretation of genetic tests and management of genetic conditions.
This can be for genetic conditions identified on testing completed in the NHS or elsewhere.
By identifying specific genetic mutations or variations, doctors can better diagnose and treat individuals with neurodevelopmental disorders, as well as being able to give information about prognosis, the likelihood of associated conditions, provide genetic counselling and ongoing support and follow-up care.
Please note that genetic testing is not a routine investigation for neurodevelopmental disorders - not all children with ADHD, autism or other conditions require genetic testing, this is decided on a case by case basis.
Genomic Interpretation and Case Management
This service is for children who have already had a genetic test which has identified a genetic alteration.
We can only accept referrals with an attached copy of the genetic
Our service can provide the following:
Interpretation of genetic result
Review of existing scientific evidence
Explanation of significance
Full diagnostic explanation
Advice and formal written management plan including need for onward investigations or support
Provision of relevant articles and leaflets for parents use
The appointment will be in person and will last an hour. It may be possible to provide a video option but this will be at discretion at receipt of referral depending on the nature of the referral.
The fee includes a to whom it may concern letter that can be used with wider professionals.
KBG Syndrome/PUF60 expert video appointment
Karen also has published and has expertise in a number of other genes, most notably HUWE1 in which she was senior author on the largest cohort described. Karen was involved in producing Unique parent leaflets for both PUF60 and HUWE1 as well.”
This is available for families in the UK and internationally who wish to consult with Karen in her expert capacity. This will last up to an hour.
Frequently Asked Questions
What if my child needs further investigations?
The doctor may suggest that because of your child’s genetics diagnosis they should have further investigations. They will put this in a letter to your GP who will need to take the referrals forward for your child.
Can you arrange genetic testing for my child?
No. Due to the NHS genomic testing directory arrangements we do not arrange private genetic testing. Our service is only available for children who have already undergone genetic testing in the NHS or via an accredited laboratory.
Can you arrange genetic testing for a family member?
Again no. Due to the NHS genomic testing directory arrangements we are not able to arrange genetic testing for family members.
My child has autism or ADHD. Should they have genetic testing?
Autism and ADHD are common conditions. Most children will not need to have genetic testing. Genetic testing cannot be arranged through our service. If you are being seen at BICP for autism and ADHD assessment and our clinicians think genetic testing is advisable they will suggest this is taken through NHS routes.
I want my child to be seen by the geneticist, I am currently pregnant. Can we still be seen?
The geneticist may be able to provide general genetic counselling dependent on the contents of your child’s genetic result. They will not be able to provide prenatal advice due to our governance arrangements. We would strongly advise you if you are pregnant to ask your GP or midwife to refer you to your local NHS genetics service who can give you prioritised prenatal advice. We are not able to arrange this for you from BICP – it must be done via NHS pathways.
There is a family history of cancer or a condition that can cause childhood cancers. Can we be seen for that?
No. We do not provide a cancer genetics service at BICP.
What about testing that is done through private companies?
We are not able to advise on ancestry testing results or the like. You will be asked to provide your result and the doctor can advise on whether the referral can be accepted.