Getting Approved Genetic Testing Done

Genetic testing can be arranged direct to the consumer (DTC), but because the science is advancing so rapidly it is recommended by the National Genome Research Institute to discuss the testing process first with a qualified medical specialist or appropriate genetics counsellor. As in any market, there are many companies seeking to meet the emerging demand by providing testing services, and the quality plus levels of accreditation of these providers will vary.

It is especially important for people with a family history of cancer, or concerned about cancer to specifically seek advice from an accredited oncology genetics expert.

How the latest genetic tests can be used:

Diagnosing carrier status

A carrier of a gene may not get the disease, but they can pass the altered gene onto their children

Prenatal testing

To discover whether an unborn child will have a gene-related condition.

Diagnosing inherited dispositions

To test for the presence of inherited dispositions prior to the onset of symptoms

Pharmacogentic testing

To determine personalised drug therapies

Removing uncertainty

If a known alteration causing disease is not present in a person, this can naturally can provide a sense of relief.

Proactive therapies

A positive test for a disease-causing gene alteration can encourage people to take steps to reduce the chance of developing a disease. Proactive testing can reduce feelings of uncertainty and enable informed decision making around both health and lifestyle.

Diagnostic testing

To confirm a diagnosis prior to the development of any signs or symptoms that suggest a genetic disease.

Predictive testing

To test whether you have an increased probability of a disease prior to symptoms. For example, testing for diseases that may ocurr later in life such as colon or breast cancer or adult onset (Type 2) diabetes.

Presymptomatic testing

This is a type of predictive testing that can indicate which family members are at risk for a certain genetic condition already known to be present in their family. This approach may be applicable for conditions such as Huntington's disease or autoimmune Graves' disease.

Ensuring Approved Testing Systems and that the Laboratory is Thoroughly Regulated

London genetics testing expert, Dr James Mackay says, "Although  genetic testing is becoming increasingly commonplace, mosts tests are still not regulated and can go to market without independent analysis to test the claims of the manufacturers." Dr Mackay warns, "For example, the FDA in America has to date only regulated a small number of genetic tests sold to labs as diagnostic kits. This means that new tests  have not always been examined to ensure that they are clinically meaningfulWe are still therefore in a situation where the regulation is catching up with the science (and vice versa!) and this factor has to be taken into consideration when asking what tests can be perforrmed in the clinical setting."

Responsible Genetics?

In the UK according to the Council for Responsible Genetics, Helen Wallace, Deputy Director of GeneWatch UK reports in her section entitled 'Misleading Marketing of Genetic Tests', that although the Human Genetics Commission has recommended the regulatory authorities to oversee clinical utility there has actually been little response. Some individual tests for single genes are assessed by NICE, but in Europe, "There is no regulatory assessment of clinical validity or utility".
Dr James Mackay is an accredited Consultant Clinical Genetic Oncologist and an Honorary Senior Lecturer in the Department of Molecular Biology, University College London (UCL).

Click here to arrange approved medical-led, genetic testing via accredited laboroatories.

For further information: National Genome Research Institure

Any condition caused by the body’s immune response against its own tissues. Full medical glossary
Abnormal, uncontrolled cell division resulting in a malignant tumour that may invade surrounding tissues or spread to distant parts of the body. Full medical glossary
The large intestine. Full medical glossary
A disorder caused by insufficient or absent production of the hormone insulin by the pancreas, or because the tissues are resistant to the effects. Full medical glossary
The process of determining which condition a patient may have. Full medical glossary
The building blocks of the genes in almost all living organisms - spelt out in full as deoxyribonucleic acid. Full medical glossary
The basic unit of genetic material carried on chromosomes. Full medical glossary
Relating to the genes, the basic units of genetic material. Full medical glossary
intermittent claudication Full medical glossary