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Genetic Counselling Services
Planning to start a family can be an exciting time. However, you may wish to know more about whether a pregnancy is at risk to develop a genetic condition before starting your reproductive journey.
Specific genetic tests, known as carrier screening, can identify if you and/or your partner carry a genetic condition that may be inherited by a future pregnancy.
Carriers are typically well and healthy, and may therefore only find out that they are carriers of a genetic condition when they have an affected child.
Knowing about genetic risk before starting your family or early in pregnancy will enable you to make informed reproductive decisions.
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If there is a chance for you to have a child with a genetic condition, you may wish to discuss options for genetic testing before or during a pregnancy. Your options may include prenatal diagnosis through invasive or non-invasive procedures, or the option of testing before pregnancy through an IVF process (known as preimplantation genetic testing = PGT).
We work closely with specialist partners with many years' experience working in the fertility sector. If you are interested in learning more about assisted reproductive technologies (including referrals for PGT or review of results), please follow this link to Fertility Genetics
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Proactive genetic screening allows otherwise healthy adults, without a personal or family history of disease, to learn more about how their genes could potentially impact their health. This type of genetic testing allows people the opportunity to access preventive measures they otherwise would not have known were needed. This may include additional cancer and/or cardiac screening or medications to reduce their risk of disease.
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You've received a letter from a relative to say that there is a genetic condition in your family, and that you may be at risk. We understand that this may be unexpected and worrisome information to receive and we can help guide you through this. Knowing about a specific genetic alteration/condition in your family may prompt predictive/ pre-symptomatic genetic testing to understand your risk.
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Approximately 10-15% of cancers have a strong underlying genetic predisposition. Genetic testing to identify an inherited predisposition to cancer can have important implications for treatment decisions, risk-reducing interventions and cancer screening. Identifying an inherited predisposition to cancer in a family also allows family members access to testing to better understand their cancer risks.
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It is estimated that 1 in 5 patients with a condition that affects the heart muscle (cardiomyopathies) or the electrical signal in the heart (arrhythmias) have a strong underlying genetic predisposition. Genetic testing for inherited cardiac conditions can help identify families at risk and in many cases can change patient management.
Genetic testing for inherited conditions that affect cholesterol levels and connective tissue (an important building block of our cardiovascular system) are also available.
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If you have already had genetic testing ordered by your doctor but you have unanswered questions about what this means for you and your family, we can review your results and address your concerns together.
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We can also help you if there is a rare genetic condition in your family.
Please contact us if you have questions about other areas of genetics such as;
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Immunology - hereditary conditions affecting the immune system (e.g. severe combined immune deficiency)
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Haematology - inherited blood disorders (e.g. sickle cell anaemia, thalassemia)
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Neurology - inherited conditions affecting the nerves, brain and/or muscles (e.g. motor neurone disease, Huntington disease, Duchenne muscular dystrophy)
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Metabolics - inborn conditions affecting the ability to metabolise certain foods (e.g. phenylketonuria)
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Dermatology - inherited skin conditions (e.g. neurofibromatosis, albinism)
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Ophthalmology - inherited eye conditions (e.g. retinitis pigmentosa, Stargardt disease)
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Endocrinology - inherited conditions affecting the hormonal systems in the body (e.g. congenital adrenal hyperplasia, multiple endocrine neoplasia)
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Nephrology - inherited kidney conditions (e.g. polycystic kidney disease)
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Audiology - inherited conditions affecting hearing (e.g. nonsyndromic hearing loss, Waardenburg syndrome)