Yesterday I went to see a movie called “Three Identical Strangers”. It’s the story of three identical male triplets separated at birth and reunited at the age of 19. As a genetic counsellor I often ponder the question of nature versus nurture and this movie investigates this theme superbly. Identical twins and triplets are born with the same genetic make-up. However when these type of siblings are reared apart, there is an argument that this informs or gives an indication to which traits or attributes have a strong genetic or hereditary component and which ones are more due to one’s environment.
Research tells us that the most rigorous experiments or studies are ones called “randomized control trials” where a group of participants are randomly assigned to being an active participant or being a control. In medicine we see this type of trial where a group of people with the same condition are randomly divided into receiving either a medication or treatment under investigation or they are given a placebo and are what are known as controls. However with adoption studies, because we have modern day ethic committees who oversee all research conducted, a researcher cannot randomly assign newborns to being either adopted or to stay with their birth parents so observational studies are performed. This is where people “assign” themselves and researchers observe differences.
In psychology, these types of studies were conducted to measure personality or behavioural traits such as extroversion and psychological disorders such as depression. I am often asked if conditions such as autism or depression are “genetic”. When people say “genetic” in this context, they mean is there a strong inherited link. Science is not at the stage where there is a simple genetic test for traits or conditions like depression or autism. In reality, like most things, there is a combination between genes and environment; we may be born with a predisposition however how we are brought up or what we are exposed to can greatly influence the development of these attributes.
People are amazed with how identical twins (either separated at birth or not) are similar. I feel that these similarities are encouraged and reinforced. Twins separated and reunited like seeing what they have in common. It reminds me of when people start a new romantic relationship, couples dwell in what they have in common. It is not usually until later do couples consider how they are different.
Isn’t it lovely that we as humans have influence on what we experience or how we are as people? Our personalities and our traits and what makes us, us are not set in stone. It can change. We can change. If we have three copies of chromosome 21 we will have Down syndrome or if we have two serious mutations in our CFTR gene we will have cystic fibrosis. However if both of our parents have schizophrenia, it does not mean that we will also have this illness. If many of our relatives are outgoing, it does not mean that our children will be too. Three Identical Strangers is a fantastic documentary combining the things that I love; genetics, psychology, the theme of nature versus nurture and ethics. If this sounds like your cup of tea, check it out!
What is Genetic Counselling?
As a genetic counsellor, “what is genetic counselling?” is the most common question I am asked. Most people are not aware of ever having met a genetic counsellor and do not know what genetic counselling is or what genetic counsellors do. Genetic counselling is a relatively new profession and there is quite a bit of controversy surrounding our professional name and whether it is the best description of what our role entails.
Genetic counselling is aimed at providing information and support to people who have or are at risk of genetic disorders. A genetic counsellor is a postgraduately trained health care professional who can identify your risk factors and provides clear information about the chances of being affected by a specific genetic condition. Usually when you have a health related question or concern you go and see a General Practitioner. If this issue is genetics related, you may be referred to see a genetic counsellor.
Genetic counsellors are health care professionals who integrate their knowledge on medical genetics, basic science and counselling theory with their skills in genetic risk assessment and communication to educate their clients on a diverse set of genomic or genetic indications. They help people to understand their genetic contributions to disease. These professionals are employed in diverse settings such as public hospitals, community health centres, IVF clinics, university research facilities and private medical centres. Genetic counsellor usually have an undergraduate degree in science, nursing, social work, teaching or psychology followed by a two years masters course in genetic counselling. Once qualified and practicing in the field, genetic counsellors usually undergo an accreditation process to become certified.
Genetic counsellors investigate the genetic history of your family, arrange for appropriate genetic testing, interpret the details about your disorder, evaluate the inheritance patterns and review the options available to treat your medical condition. They will also liaise with your general practitioner and other medical specialists in regards to your results.
Some common examples of when you may meet with a genetic counsellor include:
• You have undergone routine pregnancy screening tests and have received a high risk result
• You have a strong family history of a particular condition and would like information about your risks and about genetic testing
• You have just had a diagnosis of breast or ovarian cancer and your medical oncologist would like to know whether you have an inherited reason for your history of cancer
• You have a child with a recessive condition like cystic fibrosis and would like to discuss carrier testing and options for following pregnancies
It is a rewarding and fulfilling professional and I love doing my job. There is an international shortage of genetic counsellors so it might just be a great new vocation for you too.
Consultant Genetic Counsellor
Happy Australia Day! Today is the 26th January and is a national public holiday in Australia. Australia day commemorates the arrival of the British colonizers, along with many convicts, into Australia in 1788. Unfortunately the day is having an increasing negative connotation associated with it. Some refer to today as Invasion Day and there are discussions about whether our national day should be changed to another day. It was heartwarming to hear in a recent survey that the majority of Australians want to celebrate a national day and they don’t mind which day the holiday falls on. I feel the same way. I do like the idea around having our national day on May 8 (Mate Day); that really would be quintessentially Australian. However I do like celebrating our national holiday in summer.
I feel very lucky to have been born here and to have grown up in this great country. It made me laugh this morning when my partner put on an Aussie playlist on Spotify and listened to classics such as “We Come From A Land Downunder” and “You’re the Voice” while eating our crumpets for breakfast. This led me to think about what it means to be Australian. Australia is a multicultural country. We have people either born from, or have links to, many nations from around the world in our nation, many of which are represented here in Melbourne. My parents live in Newcastle, which is a much smaller city in Australia. When they came to visit a year or two ago I took on a personal challenge, without telling them, of eating a different cuisine every meal. We had Aussie classics like a good old-fashioned Aussie BBQ, I took them for yum cha for brunch and we had Vietnamese Bahn Mi’s for lunch. We had North African for dinner one night and on another I took them to my favourite Italian Australian Asian fusion restaurant, Franco Choos, for dinner.
As a genetic counsellor and someone who is passionate about genetics, I have been accused of relating everything back to genetics. Australia is a nation with a diverse cultural mix with people living here with vast ethnic backgrounds. But this also means that we have a mixture of genetic makeups from around the world. One way of taking a look at this makeup is through ancestry testing. I am half Zambian and half Caucasian Australian. Like many people who undergo ancestry testing, I was a little surprised with my results. As expected, about half of my makeup is African. However a large component is Scandinavian. This surprised me as I expected the remaining genetic mix to be from the British Isles. It just makes me want to go to Scandinavia even more. The ancestry test offered by my company Insight Genomica is a little different from many on the market. Most of the ancestry products break ancestry down into several broad groups whereas ours is much more defined. It was developed by a university academic population geneticist with over 800 reference populations and 36 different gene pools. So if finding out more about your ethnic background or ancestry appeals to you, feel free to get in touch.
Matt Burgess, Consultant Genetic Counsellor
Hello and Happy New Year! I am lucky enough to be writing this first blog post of the year from sunny Byron Bay in Northern New South Wales, Australia. I’m away on vacation with my partner for some summer fun in the sun and some much-needed relaxation time after a busy and happy 2017. As I sit here contemplating 2017 and envisioning 2018, like most of you, I think about the New Years resolutions that I have made.
Continue reading “New Year Resolutions”