Genetic Testing For Cancer, Rare Diseases and Family Planning

Genetic Testing and Counselling for Cancer, Health Conditions, Rare Diseases & Family Planning

What is Genetic Testing?

Genetic testing uses your DNA, the instructions that make you who you are, and analyses it for any changes that might explain health problems, show your risk for certain diseases, or provide information about your family’s health history.

Why Might You Want Genetic Testing?

Many of us want to better understand our health, prevent future illnesses, and make informed decisions about medical care for us and our families. It can provide answers about inherited conditions, help with family planning, and guide more personalized treatments. Our NHS has invested significantly in genomic medicine, with a recent boost of £175 million. Despite this investment, it will not be accessible to all. Private genetic testing enables more of us, who are not eligible for NHS genetic testing, to learn more about our DNA and what is hidden in our genetic code that we could pass on to our children.

Genetic tests will not tell you that you have, or will in future develop, a condition, they help you understand if you have an increased risk of developing it. Knowledge is power and prevention is better than a cure.

Why Do Genetic Testing?

Personal Health Reasons

Disease Risk Assessment:

Find out if you are at higher risk for conditions like cancer, heart disease, Alzheimer’s, and many others.

Carrier Screening:

Identify if you carry genes for inherited diseases that you could pass on to your children.

Diagnostic Testing:

Genetic tests can help diagnose a specific disorder.

Pharmacogenomics:

Discover how your genes affect how you respond to medications and minimises unwanted side effects.

Family Planning

Carrier screening:

Identify if you carry a genetic variant for a particular inherited disorder. These tests are commonly offered to couples planning a pregnancy to understand their risk of having a child with a genetic condition like Cystic Fibrosis, Sickle Cell, Tay-Sachs, PKU and Spinal Muscular Atrophy.

Fertility Testing:

Identify a genetic condition that can impact on male and female fertility.

Y-chromosome Microdeletions are the second-most common cause of male infertility. Specific gene deletions are screened that are directly linked to abnormal or no sperm production.

Prenatal & Newborn Screening

Prenatal screening:

These tests aims to detect conditions like genetic abnormalities or birth defects in a baby early in pregnancy.

Non-invasive prenatal testing (NIPT)

At 11-13 weeks pregnant a simple blood test from the mother’s arm screens her blood to determine the risk of the baby having a possible chromosome abnormality like Down’s Syndrome (called Trisomy 21).

Newborn screening:

When a baby is born newborn screening can check for various conditions in that can result in early treatment and intervention.

Genetic Counselling - Sarah Beck (GCRB)(AHCS)

Genetic testing is not undertaken lightly for a number of reasons. If you are considering genetic testing it is sensible, and mandatory within the NHS, that you discuss your situation with a Genetic Counsellor. They are highly qualified specially trained professionals who can help you understand the implications of the test, including both the possible risks and benefits, and to make informed choices about your health and family planning. A Genetic Counsellor provides support, explains complex genetic information, and helps individuals cope with the emotional aspects of genetic testing.

Private Consultant Genetic Counsellor – Sarah Beck

Sarah is a Consultant Genetic Counsellor with over 25 years’ experience working in the NHS and Private Practice. She has worked in the NHS Clinical Genetics Services in Manchester, Newcastle, Oxford, Cambridge, Southampton and London as well as overseas in Syndey Australia and Auckland New Zealand.

Sarah now runs her own private practice, Gene Care, and she is registered with the Genetic Counsellor Registration Board (GCRB) and the Academy for Healthcare Science (AHCS). Sarah is available for pre and post-test Genetic Counselling consultations, by phone or videocall.

Private Genetic Testing - Contact Us

“Patients don’t care how much you know, until they know how much you care.”

With over 20 years’ experience in DNA testing, human genetics and molecular diagnostics the Forensic Genomics Innovation Hub is here to help. We place you at the centre of everything we do, understanding that each family’s situation is unique. We take time to offer compassionate, personalised support throughout the entire process. Our fully confidential and professional service ensures your privacy is always protected, while our expert counselling team is available to guide you through your options with care and clarity.

We are committed to empowering you with the most suitable, accurate, and reliable genetic testing solutions, tailored to your specific needs and circumstances. We only advocate genetic testing that is clinically approved. Understanding your genetic risk of a condition needs to assist you and your doctor take steps to protect your health and make appropriate informed life-style choices.

Please contact us to discuss your specific genetic testing requirements. We are here to ensure end-to-end support using only highly experienced and qualified professionals.