Frequently asked questions about mass sequencing

Yes. It is a laboratory technique that does not involve any additional risks beyond those associated with collecting the sample.

There are currently around eight sequencing technologies available on the market. Each technology has been developed by different technology companies, which provide the reagents and equipment needed to carry out the sequencing.

No. The test itself is not painful. Any discomfort will depend on the type of sample that is needed.

No. Mass sequencing is a very powerful technology that is particularly useful for diseases with a genetic cause. It is estimated that, at present, only around 30-40% of inherited diseases can be diagnosed.

The clinical significance of many genetic variants is still unknown, particularly those found in regions of the genome that do not code for proteins.

People suspected of having an inherited disease, patients with certain types of cancer, people with rare diseases, and patients who may benefit from personalised treatments.

This depends on the type of test and the laboratory. Results may be available within a few days or weeks or, in some complex cases, may take several months.

Not always.

In some cases, genetic changes are identified whose exact clinical significance is not yet known.

Yes. Some genetic changes are inherited and may have implications for other members of the family. For this reason, genetic counselling is often recommended. On the other hand, if the sample being sequenced is from a tumour, the genetic changes detected are usually found only in the tumour cells and therefore are not necessarily passed on to other family members.

Yes. Mass sequencing is progressively replacing some "traditional" techniques because of its greater sensitivity, speed and effectiveness. Although some of these techniques will still be necessary in certain cases, mass sequencing is playing an increasingly important role and complements many traditional diagnostic techniques.