One of the most exciting and potentially high impact developments that many laboratories are currently translating into patient care is the use of next generation sequencing (NGS). NGS is often referred to as massively parallel sequencing, which means that millions of small fragments of DNA can be sequenced at the same time, creating a massive pool of data. NGS is contributing to the growth of genomic healthcare, which uses many pieces of genetic information to refine diagnosis, individualise treatment, prevent drug effects, treat epidemics and develop new therapies. Read more about NGS.
Non-invasive prenatal testing (NIPT) is a new technology that allows women to have prenatal testing for some genetic and chromosomal conditions from a simple blood test. We now know that some of the baby’s DNA - called cell-free fetal DNA (cffDNA) - circulates in the mother’s blood during pregnancy. Currently, this cffDNA can be tested to tell us the sex of the fetus, in cases where the woman or couple are carriers for a serious genetic condition that affects only males or females and to diagnose certain single gene disorders. In the future, there will be a test available to screen for Down syndrome.
The main advantages of NIPT are that it can be carried out much earlier in pregnancy than current tests and that the procedure does not carry any increased risk of miscarriage. The test only requires a sample of maternal blood, rather than having to take a sample directly from the pregnancy, as in other types of prenatal diagnosis such as chorionic villus sampling (CVS) or amniocentesis.Visit the RAPID website to find out more about NIPT.
Patients may present in clinic with the results from one or more of the increasing number of genetic testing kits that are available for purchase over the internet. These direct-to-consumer (DTC) genetic tests usually involve the individual posting a cheek cell sample (mouthwash/swab) to a laboratory that performs the test then sends the results direct to the individual. Most of these tests are for conditions where there is not a single gene mode of inheritance. They often generate a large amount of data about an increased or decreased likelihood of someone developing a condition. The clinical implications of this information are difficult to interpret as the evidence base on which they rely may be insufficient to make meaningful management decisions.
To inform the public about these genetic testing kits, the Human Genetics Commission (HGC) published a framework document in August 2010. Their principles state that:
