For families living with a rare diagnosis caused by a genetic defect, often the first time we ever hear of our condition is in a room with a doctor. Living with a neuromuscular condition - my own rare diagnosis - is a lifelong commitment. This extends across many categories of conditions.
In my case, the only way to stop the faulty genes having an effect at the moment is to use a specific type of IVF which ensures that a couple can have a healthy baby. More recently, the Government passed legislation which allows so-called three-parent babies, where a donated egg with healthy mitochondrial DNA is used in combination with the carrier's egg and sperm in IVF.
These techniques are just two examples of cutting edge science which allow doctors to give parents another option. Other techniques allow people, like Angelina Jolie revealed recently, to have elective techniques to reduce the impact of gene mutations. However, if people don't know that they carry these genes, they cannot decide what action to take, if any.
Genetic counselling is a hugely understated part of carrier screening. Being told that you carry and could pass on a gene which could adversely impact your child's health, or have a gene which could impact your own, is not a decision to be underestimated. For many it is the right thing to do. But appropriate counselling from the outset will be vital to ensuring people can make sense of the information the test gives them, and make the choices that best suits them. Genomic medicine is an exciting era and I believe everyone deserves to have options. This is another option for the masses, and I hope we use it properly.