Medical Genetics Department

The Medical Genetics unit is the part of the network that helps patients and families understand the role of genes in health and disease. It brings together medical geneticists and genetic counsellors with a specialist genetics laboratory, so that genetic testing is chosen carefully, performed accurately and — most importantly — explained clearly. For an international patient, the unit is the place to turn for a suspected inherited condition, a strong family history of cancer or other disease, questions before or during pregnancy, or the interpretation of a genetic test result — and the team that can review such questions remotely, since much of genetics is done through information and laboratory analysis rather than a procedure.

What the medical genetics unit does

Medical genetics is the specialty concerned with how conditions are inherited and how genetic information can guide diagnosis, treatment and prevention. Its work is partly diagnostic — identifying the genetic cause of a condition — and largely about counselling: helping people understand what a genetic finding means for them and their family, what their options are, and what it does and does not predict. Because a genetic result can affect not only a patient but their relatives and future children, this careful, supportive explanation is at the heart of the unit’s role.

The field has grown rapidly. Genetic testing now informs the diagnosis of rare diseases, the assessment of inherited cancer risk, decisions in cancer treatment (where the genetics of a tumour can guide therapy), and choices in family planning and pregnancy. The unit’s task is to use these powerful tools wisely — recommending the right test for the right question, interpreting the result accurately, and ensuring that every patient understands it. Working closely with the genetics laboratory and with other specialties, the unit makes genetic medicine both accurate and genuinely useful.

What the unit covers

The unit’s work includes:

• Diagnosis of inherited and rare diseases, identifying a genetic cause where one is suspected.
• Hereditary cancer risk — assessing families with a strong history of cancer, testing for the relevant genes, and advising on screening and prevention, in partnership with the oncology team.
• Genetic counselling for individuals and families, before and after testing, to explain results and options.
• Reproductive and prenatal genetics — carrier screening, advice before pregnancy, and the interpretation of prenatal tests, with the obstetrics and perinatology teams.
• Pharmacogenetics and tumour genetics, where genetic information helps guide treatment choices.
• Counselling for inherited blood, metabolic and neurological conditions, with the relevant units.
• Family screening when an inherited condition is identified, so that relatives can be assessed and supported.

In each case, the emphasis is on choosing the right test and explaining the result clearly and compassionately.

Tests and how they work

Genetic assessment usually begins not with a test but with a careful family and medical history, often mapped as a family tree, which guides whether testing is appropriate and which test is most useful. The laboratory then offers a range of analyses: tests for single genes, panels covering many genes relevant to a condition, and broader analyses that read large parts of the genome where needed. For cancer, both inherited (germline) testing and analysis of the tumour’s own genetics may be used.

A central principle is that genetic testing is done thoughtfully, with the patient’s understanding and consent, because results can have implications for relatives and for the future. The unit’s genetic counsellors prepare patients beforehand — explaining what a test can and cannot tell them — and interpret the results afterwards, translating complex findings into clear, practical guidance. This careful framing is what makes testing helpful rather than confusing or alarming.

Counselling and what it provides

Genetic counselling is the core service of the unit. It provides:

• A clear assessment of risk, based on family history and, where appropriate, testing.
• An explanation of what a genetic result means — and, just as importantly, its limits and uncertainties.
• Guidance on options, whether screening, prevention, treatment or reproductive choices.
• Support for the emotional impact that genetic information can carry.
• Advice on what a finding means for relatives, and how the family can be supported.

This counselling is offered both before any test (so that the decision to test is informed) and afterwards (so that the result is understood and acted on appropriately).

The multidisciplinary team

Medical genetics connects to many specialties. It works with oncology on inherited cancer risk and on tumour genetics that guide treatment; with obstetrics and perinatology on reproductive and prenatal genetics; with haematology on inherited blood disorders; and with neurology, endocrinology and others on the many conditions with a genetic basis. Within the unit, medical geneticists and genetic counsellors work alongside the specialist laboratory, and coordinators support international patients. Where a genetic finding affects treatment, the relevant units are involved so that knowledge is turned into action.

Technology and facilities

The unit is built around a specialist genetics laboratory capable of the range of modern analyses, supported by the bioinformatics needed to interpret them and by the counselling expertise that makes results meaningful. As throughout the network, these services follow strict quality standards, which is essential in a field where an accurate result and its correct interpretation carry such weight.

What to expect as an international patient

For a patient or family abroad, much of genetics can be handled through information rather than travel. Your question is first reviewed remotely from your family history and any existing reports, so the team can advise whether testing is appropriate, which test would help, and whether a visit is needed at all. Where testing or counselling is arranged, an international patient coordinator supports scheduling and language, and the genetic counsellor ensures that results are explained clearly — often something that can be done remotely. Because genetics so often involves the wider family, the unit also advises on what a finding means for relatives at home.

Remote review before you travel

Genetics is especially well suited to remote support, because so much of it rests on history, records and laboratory analysis rather than a physical examination. By sharing your family history and any previous results, you can have the unit advise whether testing is appropriate and what it would involve, interpret an existing result, and outline the likely plan and cost — frequently without the need to travel. A remote second opinion on a genetic result or on a recommended course of testing is also available.

Quality and standards

Genetic medicine demands accuracy and care, both in the laboratory and in how results are communicated. The unit works to defined protocols, draws on an accredited genetics laboratory, and follows the principle that testing is done with informed consent and clear counselling. Accreditation such as JCI applies at hospital level and reflects the quality systems that operate across its units. When considering testing, it is reasonable to ask which test is being recommended and why, and how the result will be explained and used.

What a genetic result means — and how it is protected

Genetic information is sensitive and personal, and the unit treats it with particular care. Two things matter to most patients: understanding what a result actually means, and knowing that it is handled confidentially. On meaning, the unit’s counsellors are careful to explain not only what a finding shows but also its limits — a genetic result often describes a risk or a predisposition rather than a certainty, and understanding that distinction is essential to making good decisions. On confidentiality, genetic results are kept within your medical record and shared only as you agree, and testing is always done with informed consent, after a discussion of why it is being recommended and what the possible outcomes are. Because a genetic finding can have implications for relatives, the counsellor will also discuss, with your agreement, how family members might be informed and supported if that is relevant — but the decision rests with you. For international patients, results and their interpretation can usually be shared securely and explained remotely, so that you can absorb the information calmly, ask questions, and decide on any next steps without pressure. This combination of clear, honest explanation and careful handling of sensitive information is central to what makes genetic medicine genuinely helpful rather than a source of confusion or anxiety.

This page is for general information and does not constitute medical advice, a diagnosis or a treatment recommendation. The units and services available vary between hospitals in the network; please confirm details for the unit proposed for your care, and always consult a qualified clinician about your situation.