Single Site Genetic Testing

Single site or ‘predictive’ genetic testing gives relatives a definitive answer. Either:

1. You have not inherited the familial gene variant.  In this situation, your risk of developing cancer will be similar to that in the general population and you cannot have passed the gene variant onto any of your children.

2. You have inherited the familial gene variant. Your cancer risks will depend on your age, gender and on which gene is involved.  In this situation, increased cancer screening and/or risk-reducing surgery will be discussed with you and predictive genetic testing can then be offered to your children if appropriate.

• Any blood relative of someone with a known genetic variant can have predictive testing.
• The brothers, sisters, parents, and children of someone with a familial cancer gene variant will each have a 50% chance of also carrying the familial gene variant.
• Aunts, uncles, nieces and nephews will have 25% chance and cousins will have a 12.5% chance. 
• Cancer gene variants do not skip a generation, so if a parent has a normal result, their children do not need to be tested. 
• It is important to remember that, not everyone with a cancer gene variant will develop cancer and therefore, it may appear that the gene variant has skipped a generation in some families.
• In order to offer you predictive genetic testing, we will need a copy of the genetic testing report from a relative who has had genetic testing and carries the familial gene variant.
• It is helpful if this report can be provided before your initial consultation, but if this is not possible, we can request the report directly from another Genetics Service after your appointment.

During your initial consultation, one of our Genetic Counsellors will take your family history and explain the implications of the gene variant identified in your family.

Your Genetic Counsellor will explain what the gene variant is, how it is inherited, the associated cancer risks, and the options that would be available to you if you have inherited the familial gene variant, including additional cancer screening and/or risk-reducing surgery.

If you decide to proceed with genetic testing you will be sent a blood kit, to provide a blood sample for genetic testing.  

The result will take around three weeks and another consultation will be arranged for you to discuss your result, when it is available.