Referrals to Clinical Geneticists come from general practitioners and all hospital specialists.  Specific areas of Clinical Genetics include pre-natal diagnosis; diagnosis of learning disability and developmental disorders of childhood; cancer genetics; genetics of neurological, cardiac and renal disorders; and genetics of disorders of the skeletal system such as Marfan syndrome, Ehlers Danlos syndrome and Osteogenesis Imperfecta.

A consultation with a Clinical Geneticist might be helpful to you if you have questions which are similar to any of those listed below:

I have a family history of cancer. What implications does this have for my own personal risk of cancer, and/or that of my children?

I have a child with learning and/or physical disabilty and doctors have not been able to provide an explanantion or specific diagnosis.  What is the underlying diagnosis?

I have a child with learning and/or physical disability. What is the risk of similar problems recurring in a future, as yet unborn, child?

I am an adult, or have a child, in whom the possibility of a connective tissue disorder such as Marfan syndrome or Ehlers-Danlos syndrome has been suggested.  Do I have one of these conditions?

A genetic disorder is known to run in my family. Have I inherited the genetic susceptibility to this disorder?

Advances in genetic testing technology mean that more and more individuals with rare disorders are now being given a precise diagnosis in a more timely way.  Recently there has been emphasis on the importance of this, with reports and government funding for genetic testing, through the UK 100,000 Genomes Project and the subsequent introduction of Whole Genome Sequencing into routine NHS practice.

Dr Shaw-Smith provides NHS clinics through Peninsula Regional Genetic Service.