Welcome to
Genetic Consultation Online
You can now access a private genetics consultation online from the privacy of your own home. You get to e-meet a highly skilled and reputed doctor to discuss your or your child’s medical problems and genetic diagnosis, within 2-4 weeks of making contact.  Please read the ‘Frequently Asked Questions ‘ page to learn more about how this service is delivered.
Dr Usha Kini, MD, MRCP, FRCP
Dr Kini is a Senior Consultant with over 20 years of experience in Clinical Genetics. She is currently employed as the Clinical Lead (Head of the Department) and Consultant at the Oxford Centre for Genomic Medicine in Oxford, United Kingdom. She also holds the position of Honorary Senior Clinical Lecturer at the University of Oxford, UK.
Clinical expertise:
Her main area of expertise is the genetic diagnosis of children with syndromic features such as developmental delay, structural abnormalities, unusual facial features (dysmorphology), intellectual disability and behavioural problems including autistic spectrum disorder. She has been running dedicated clinics for children and adults born with brain abnormalities eg. malformations of cortical development such as microcephaly, macrocephaly, lissencephaly, polymicrogyria. She also runs a dedicated genetics clinic for individuals with orofacial clefting. Another area of expertise is neurofibromatosis type 1 (NF1) and Dr Kini has vast experience in making a new diagnosis of NF1 and counseling families regarding the complications and reproductive risks of these disorders.
Research:
She holds an extensive research portfolio in the genetics of brain malformations and orofacial clefting. She has over a hundred publications to her credit and has published several novel genes causing brain abnormalities, intellectual disability, epilepsy and clefting. Her doctoral (MD) thesis was about the medical and neurodevelopmental effects from exposure to antiepileptic medication during pregnancy, particularly valproate (Epilim). She is currently involved in setting up a natural history study on Angelman syndrome.
Through the online consultations Dr Kini hopes to provide expert diagnosis and counselling of genetic disorders internationally.
The areas covered by her online consultations are:
Diagnosis of genetic disorders
Counselling of reproductive risks and prenatal options (testing during pregnancy)
Counselling of complications, prognosis and management of known genetic disorders
Counselling of recurrence risks and genetic testing for individuals with a family history of genetic disorders
Special areas of expertise- brain abnormalities, orofacial clefting, NF1, GPI anchor pathway disorders, dysmorphic syndromes
Frequently Asked Questions
Find Out More
What should I do if I would like to have a consultation?
We are happy to take self-referrals from patients or from parents/guardians of affected children. We also accept referrals from other clinicians.
If you would like to consider a private online consultation, please fill in the referral form and email it to geneticonsultation@gmail.com. We aim to review the form within 48 hours of receiving it. We will inform you by email whether we are able to accept the referral.
What happens once my referral has been accepted?
Once your referral has been accepted we will be in touch with you to gather all previous medical details of the patient in preparation for the consultation. This will include correspondence from other clinicians, results of any genetic tests done previously, results of imaging tests (scans, X-rays).  For maximum benefit from the consultation it would be useful to provide all relevant information prior to the appointment.
How soon can I have an appointment?
We will aim to offer an online consultation within 2-4 weeks of accepting a referral; for children- parents/guardians should accompany the child at the time of consultation, for adults- a partner or carer may be present.
How much will it cost me?
The standard cost of an appointment, lasting a maximum of 1 hour, is £500. The cost includes the pre-clinic preparation and the post-clinic letter also. The consultation will be pre-paid.
What will happen during the consultation?
You will be provided with instructions on how to access the video-consultation, in advance of the appointment. The doctor will meet you online. She will go through your family history, the patient’s medical history, do a video examination (by inspection only), discuss with you the suspected or confirmed genetic disorder, its complications, prognosis and management, explain the genetic testing involved (if being offered), discuss mode of inheritance, reproductive risks and prenatal options.
Will I/ my child be offered genetic tests?
It will be possible to offer genetic testing where sample delivery to the genetics laboratories can be done safely and within the stipulated time. Sample taking, its transport and the genetic testing will be charged separately.
Will there be a follow-up appointment?
A follow-up appointment will be offered if genetic testing offered during the first consultation yields a diagnosis.  This will carry the same tariff as the initial consultation.
If I have new questions following my appointment can I contact the clinician?
Yes, it would be possible to email the clinician at geneticonsultation@gmail.com (for a maximum of 2 times) in the 2 weeks following the consultation.
Will it be possible to meet the clinician face-to-face for the appointment?
A face-to-face clinic appointment is not available at the present time.
I am not fluent in English. Will I be able to access the consultation?
If the doctor is able to converse in your native language (as indicated by you on the referral form) then your referral will be accepted. For other languages acceptance of the referral will be reliant on the availability of an interpreter. The use of an interpreter will incur additional charges.