if you are worried about your family history, below you can find more information on how to have a genetics assessment. There are also useful videos and links to charities and support groups.

How to access genetic testing

• Have you wondered if you or a relative or child may have a genetic condition?
• Have you wondered how to access a genetics appointment or a test?

Here are a few important points to think about and a few tips on how to talk about this with your doctor or nurse:

Learn about your family’s medical history: 

this can help you and your medical team decide if genetic testing is likely to be helpful for you. Having details about your family's medical history will help understand the type of testing you may need. Usually, having information for three generations in your family is helpful. We know that this is not always possible so if you cannot get information for as many relatives, please collect as much detail as you can. It’s important to know that not everyone/every condition are offered a genetic test. This is because some conditions can be caused by environmental factors such as aging and smoking.

 

 

Speak with a doctor or nurse: 

speaking to someone can help you check if your family history could be caused by a genetic condition. A clinician, such as your GP, hospital doctors and nurses can give you advice. They could offer information on what types of tests are available and will let you know how to access them. Writing down family history details and your questions before your appointment can help you and your clinician.

 

 

 Don’t go it alone: 

Usually, people find it helpful to have the support of family and friends during health care decisions. You can talk about your thoughts with someone you feel comfortable with so that you have support during this stage. There are also online forums that can be helpful as you can learn how others made decisions. You can find a lot of links for patient forums and support groups here.

 

 

Below are some helpful videos and information on how to request a genetic test.

Have you thought about genetics?

This video is helpful for patients with cancer who are interested in finding out whether their cancer is hereditary. Useful family cancer history information to collect to share with your cancer team include:

• Type of cancer(s) in your family
• Age at diagnosis of family member(s)
• Lineage, meaning is it on the mother’s side (maternal) or on the father’s side (paternal)
• Ethnicity (people of some ethnicities, such as those with Ashkenazi Jewish ancestry, are at greater risk for certain cancers)
• Results of any previous cancer-related genetic testing

If you are worried about hereditary cancer

This video is helpful for patients with cancer who are interested in finding out whether their cancer is hereditary. Useful family cancer history information to collect to share with your healthcare providers (replace HCPs with oncologist?) include:

• Type of cancer(s) in your family
• Age at diagnosis of family member(s)
• Lineage, meaning is it on the mother’s side (maternal) or on the father’s side (paternal)
• Ethnicity (people of some ethnicities, such as those with Ashkenazi Jewish ancestry, are at greater risk for certain cancers)
• Results of any previous cancer-related genetic testing

If you are worried about other hereditary conditions

This video can be helpful to those who have thought about how a genetic test can be useful to understand themselves and how to proceed with testing. Knowing the signs to have testing done and an introduction to finding treatments, and prevention methods are discussed and what this means for an individual who is looking at further options for their healthcare.

If you are worried about your child having a possible genetic condition

Genetic testing is available to children as well. This video explores the possibility of family testing and which test can be of benefit for the family and the child. This can help healthcare professionals understand and manage paediatric conditions and how changes in their DNA could be a factor.

What tests could I be offered?

There are many different types of genetic tests available. These are split into two types based on the size of the change. Large scale changes can be found with karyotype or an array CGH test. Small scale changes can be found with a targeted test (if there is a known change in the family), a panel test or a Whole Exome/Whole Genome Sequencing. Your clinician will explain these tests in more detail.

If you have been diagnosed with a genetic condition

Some individuals find it helpful to talk to others with the same diagnosis. You can find support groups and charities at genomic alliance (link).

• It is helpful to ask your clinician or genetic counsellor about updates every few years. This is because genomic medicine changes very quickly and there may be more treatment or management options for you and your family.

Useful links and resources:

You can access patient information leaflets in the links below:

Patient information on genomic research Whole Genome Sequencing for a rare disease Whole Genome Sequencing for cancer.

Other websites for information and support

Links to charities:

• Rare disease - Genomics England
• Maggies.org
• Swan
• CRUK 
• Unique

How our team can help

• Our team support clinicians who offer genetic testing across ICHT sites and clinics.
• We are not a clinical team, meaning we do not accept referrals, however work closely with north thames genetic service and ICHT clinicians who can offer genetic testing. If you need to discuss a referral to clinical genetics, please contact the North West Thames Clinical Genetics Service here.

Meet the team here.