The main reason for referral to Medical Genetics during childhood is due to physical and/or mental differences that a parent, a teacher, or a child’s health care provider has noticed. In this case, the child is seen by a geneticist and a genetic counselor. What’s the difference between a geneticist and a genetic counselor? A geneticist is a medical doctor that has specialist training in genetics and developmental biology. Geneticists, as medical doctors, have the responsibility of making a diagnosis (where possible). Genetic counselors work with geneticists to collect information, such as family or medical histories, that might support a diagnosis, or, rule out a diagnosis.
In the world of Medical Genetics, we know a lot about many extremely rare conditions. To put that in context, we consider diseases that affect 1% of the population to be common. Expertise in the area of rare conditions is particularly valuable for those individuals who have seen specialist after specialist without receiving a diagnosis that is capable of explaining all of their symptoms. Genetics experts act a bit like detectives – hunting down pieces of evidence and attempting to fit those pieces together to see the big picture. While receiving a diagnosis inevitably brings with it an adjustment, there is great benefit to having a name to describe your experiences. Having a diagnosis can also alert you to other symptoms to watch out for or health risks that can be minimized – this can give you somewhat of a sense of control over the condition. It can also be incredibly empowering to connect to a community of people who have had the same (or very similar) experiences – it is easier to find people who have been through what you have been through when there is a name for what you’ve been through! It is also possible that there may be treatment or even a cure for the condition that is identified.
There are some things that you may find surprising about a trip to Medical Genetics:
You will not necessarily have any genetic testing. In fact, genes haven’t yet been identified for many genetic conditions (making genetic testing somewhat challenging!). Many clues to a genetic diagnosis can be found simply by looking at a person. This may sound creepy, but it is actually possible to make a diagnosis on first sight. Geneticists have an in-depth understanding of the way the body is formed and there are certain patterns of changes in appearance (many of which are very subtle) that can suggest an underlying genetic change. Geneticists will often want to take measurements such as the distance from one of your hands to the other when they are stretched out as far as possible (arm span) or the distance around your head (head circumference). Sometimes these very simple, but very powerful, tools are sufficient to make a diagnosis.
It is quite likely that you have no family history of this condition. People often find it difficult to understand how a child of theirs could have something when there’s never been anything like it before on either side of the family. It is completely understandable that families feel blind sided and unprepared when this occurs, but it is part of the unpredictability that is also very exciting about creating an entirely new person.
We ask parents whether they might be related by blood. This isn’t to make you uncomfortable, and there is no judgment implied in this question. It is simply a piece of the puzzle that can inform the big picture. When relatives, e.g. cousins, have children there is a higher chance for the inheritance of certain types of genetic conditions.
I hope this helps give you a sense of why a child might receive genetic counseling. Please ask me any questions or share you own stories – I’d love to hear your experiences!