Private genetic testing and counselling

Help your private patients take control

of inherited conditions and the clinical management

of their disease

GeneHealth UK

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Genetic testing & counsellingGenetic testing and counselling give information for relatives as well as for those with a diagnosis of cancer or a cardiac condition which means that advice can be given about the correct treatment or early detection options. All genetic tests include pre and post-test counselling and a risk assessment which identifies the correct genes for testing.

Our expert genetic counsellors discuss the implications of genetic testing, such as the relevant changes in clinical management as well as explaining variants, mutations and providing emotional support.

At GeneHealth UK our genetic counsellors can provide face-to-face consultations at a growing number of clinics as well as telephone consultations.

Oncology - Breast

BRCA1 & BRCA2Individuals or families with a history of breast and/or ovarian cancer may want to consider BRCA1 & BRCA2 genetic testing to understand their risk of hereditary breast cancer and hereditary ovarian cancer, and to help decide what risk reducing measures to consider.

Ashkenazi Jewish BRCA1 & BRCA2Ashkenazi Jewish BRCA1 & BRCA2 genetic testing looks for 3 specific BRCA mutations that are common in the Jewish community. Families with a very strong history of breast cancer and a negative Ashkenazi Jewish BRCA test result, may wish to have full BRCA testing.

Predictive testing/single site mutationPredictive BRCA1 & BRCA2 genetic testing looks for the mutation which is (known to be) the cause of the cancer in the family. Usually if a relative does not have the mutation, their risk is the same as the general population risk. If the relative does have the mutation, they will have a high risk of breast and ovarian cancer.Single site mutation tests are where we know the cause of the cancer/cardiomyopathy/other disease in the family. We know that gene A has a mutation at point B so we only need to test this part of the gene. Knowing what mutation to test for makes the test quicker, easier to interpret (positive or negative) and cheaper.

Clinical implicationsBRCA testing is important at the time of breast cancer diagnosis as it allows women to choose bilateral mastectomy rather than wide local excision thereby creating a clear survival benefit. Chemotherapy can also be targeted based on the genetic test results and risk reducing oophorectomy is also possible.

Predictive tests are available for all diseases where the specific mutation in the family has been identified

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BowelGeneBowelGene is a genetic test for bowel cancer which examines the DNA code for 11 genes known to cause an increased risk of bowel cancer. It is performed on a blood sample and if possible it is always more informative to test a relative who has had bowel cancer.

BreastGeneBreastGene is a genetic test for breast cancer which examines the DNA code for 10 genes known to cause an increased risk of breast cancer. It is performed on a blood sample and if possible it is always more informative to also test a relative who has had breast cancer.

Clinical implicationsLynch Syndrome accounts for 2-3% of bowel cancer. When diagnosed with bowel cancer and Lynch Syndrome, patients may choose to have more extensive bowel surgery, and the prognosis is better than with non-hereditary bowel cancer. Screening for other cancers may be required, and risk reducing surgery such as hysterectomy and bilateral salpingo-oophorectomy may be beneficial.

Clinical implicationsBreastGene testing allows the identification of multiple breast cancer associated genes which may change clinical management. PALB2 is in the BRCA pathway and may influence the choice of chemotherapy as well as potentially indicating the need for more extensive surgery or early detection options. ATM carriers should avoid radiotherapy so may opt for single mastectomy rather than wide local excision followed by radiotherapy. TP53 carriers have a high breast cancer risk and should consider bilateral mastectomy as well as avoiding radiation.

Oncology - Next Generation Sequencing (NGS) panels

OvarianGeneOvarianGene is a genetic test which examines the DNA code for 10 genes known to cause an increased risk of ovarian cancer. It is performed on a blood sample and if possible it is always more informative to test a relative who has had ovarian cancer.

ProstateGeneProstateGene is a genetic test which analyses the DNA code for 8 different genes which are known to cause an increased risk of prostate cancer. It is performed on a blood sample and if possible it is always more informative to test a relative who has had prostate cancer.

Clinical implicationsWomen diagnosed with ovarian cancer may benefit from genetic testing as those with BRCA mutations may wish to have PARP inhibitors as part of their chemotherapy.

Clinical implicationsProstate cancer that is associated with either BRCA gene mutations or Lynch Syndrome is usually more aggressive than sporadic prostate cancer, and may as a result require more extensive treatment.

PreconceptGenePreconceptGene is a genetic test which analyses more than 200 genes to identify couples at increased risk of having a child with an inherited condition.

Clinical implicationsFor couples at increased risk of having a child with an inherited condition they may choose to undergo Pre-implantation Genetic Diagnosis (PGD) or prenatal testing. All options will be fully discussed.

Parental

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CardioGeneCardioGene is comprised of 4 different NGS panels to ensure detailed coverage of the genes responsible for causing Inherited Cardiac Conditions (ICCs). It is performed on a saliva sample, ideally on someone who is affected with an ICC.

Depending on the particular type of ICC found in your patient or their family, the following panels may be tested: HCM, ARVC/DCM, IAS, ICD/SD. The appropriate NGS panel will be discussed prior to testing.

Clinical implicationsHCM – Identifying individuals with HCM due to Fabry’s disease is important as these patients may benefit from treatment for their condition with enzyme replacement therapy.

DCM – Identifying individuals with a LMNA-associated cardiomyopathy is likely to have an impact on their clinical management as these patients may require an Implantable Cardiac Defibrillator (ICD) at some stage in their lifetime. ICDs protect against dangerous arrhythmias and sudden cardiac death.

Cardiology

Clinical implicationsThe implications of a mutation identified in someone who is unaffected will be discussed with the client during the pre-test consultation.

CardioGene PredictIf a mutation has already previously been identified as a cause of the ICC in a family, then CardioGene Predict can offer testing for that specific mutation.

This type of test is usually performed on an individual who is unaffected within a family and wishes to know whether or not they have inherited the mutation.

What will the test show?There are 3 possible outcomes:

1. A mutation is identified in one of the genes known to cause ICC. Predictive genetic testing is possible for unaffected family members.

2. A genetic variation is identified, but the significance of whether or not it is disease-causing is not known (called a Variant of Unknown Significance (VUS). Family studies will be suggested, where possible, to see who else carries the faulty gene and to try to determine the significance of the genetic variation. Predictive genetic testing may not be possible for unaffected family members.

3. No mutation is identified. It is possible that a mutation exists in another ICC gene that is not included in the present panel. Further testing may be possible in the future with developments in research. In this instance, predictive genetic testing is presently not possible for other family members.

If a mutation is not identified, this does not mean that the ICC is not genetic, just that we have been unable to currently determine a genetic cause. Future genetic testing may be available depending on the condition.

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An opportunity for you to provide best practice genetic testing and counselling for your private patients.

GeneHealth UK is a national private company and leading UK provider of state-of-the-art genetic testing and counselling services. We are dedicated to improving patients’ quality of life by offering genetic tests that help consultants and their patients make more informed treatment and family planning decisions.

GeneHealth UK is part of Check4Cancer Ltd., who offer the largest range of early cancer detection services in the UK and overseas.

Private genetic services include:• BowelGene• BreastGene • BRCA1 & BRCA2• CardioGene• OvarianGene• ProstateGene• PreconceptGene

Genetic counselling is given before and after all genetic tests with GeneHealth UK. Our expert genetic counsellors explain the testing process and provide all essential information that your patient requires to help them make an informed decision.

Innovative • A turn-key solution – genetic testing and

counselling from a single provider• Pre and post-test genetic counselling • A smooth pathway coordinated by our service

management team• Next Generation Sequencing allows for more

clinically relevant gene testing than NHS practice• Free webinars for healthcare specialists• Simple referral process • Affordable• Bespoke testing available

Quality• NICE guidelines adhered to where available • Clinically relevant genetic testing as advised

by registered genetic counsellors (AGNC recognised)

• Quality UK laboratory (CPA-approved) used for all cancer tests

• GeneHealth UK is regulated by the CQC

National network• National network of registered genetic counsellors• Convenient appointments nationwide • Genetic counselling can be carried out face-to face

or via telephone

Rapid access• Faster turnaround times than NHS practice• Quick, convenient appointments

Welcome to GeneHealth UK

The likelihood of cancer being inherited is very low. However, genetic counselling can help people understand more

about their personal risk, and answer questions such as, ‘Am I and my children at risk?’ and ‘What can I do to detect or reduce my risk?’.Vicki Kiesel, Genetic Director

GeneHealth UK

Why use GeneHealth UK

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Visit our website at www.genehealthuk.com/referral where you can make a referral via an online form

Email us at the following address: Info@GeneHealthUK.com

Call us on 0800 331 7177 and speak with one of the client service team

Write to us at the following address:GeneHealth UK1 The MillCopley Hill Business ParkCambrige Rd.Cambridge CB22 3GN

GeneHealth UK

GeneHealth UK1 The MillCopley Hill Business ParkCambrige RdCambridgeCB22 3GN

www.GeneHealthUK.comInfo@GeneHealthUK.com

Call 0800 331 7177Mon-Fri: 08.00-20.00Sat: 09.00-12.00

We have designed our services to be comprehensive and to detect all of the clinically relevant mutations, however no genetic test will pick up all genetic mutations. If your results are abnormal you may be eligible for referral to an NHS clinic via your GP, or you could choose to see a consultant in one of our private clinics throughout the UK. This may be funded by either self-pay or private medical insurance.

GeneHealth UK is part of Check4Cancer Ltd

Referring a patientShould you wish to refer a patient to GeneHealth UK simply use one of the following methods:

GHUK/01/16

Privately insured patientIf your patient has private medical insurance and has been diagnosed with cancer, many healthcare insurance companies are likely to pay for genetic testing. However, insurance coverage varies depending on the company and policy. Unfortunately, insurance companies are extremely unlikely to cover the cost of genetic testing for healthy individuals.

Self-paying patienting Patient Private genetic testing and counselling services by GeneHealth UK are available to the self-paying patient.

Referral guidelines

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