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Genetic Testing for Immigration

While applying for certain visas to the Australian Government, such as permanent residency or citizenship, a person may be requested to undergo genetic testing to establish a genetic relationship. The Australian Federal Department of Home Affairs has endorsed Insight Genomica for such testing. Insight Genomica is proud to be a preferred supplier of such testing by the Australian Government. Genetic testing to prove a genetic relationship such as a parent child or siblings etcetera is usually conducted via a swab of someone’s check. Samples are taken for both or all interested parties and sent to the laboratory of analysis. A number of genetic markers are tested an analysed and the probability of relationship is calculated and reported. This is usually reported as the probability of the relationship is more than 99.999% or less than 0.0001%. A strict change of custody must be adhered to and once finalized, the report will be forwarded by Insight Genomica to both the clients and the Federal Government.

For more information about genetic testing for relationships for immigration purposes, please see the following link:

https://www.insightgenomica.com.au/immigration-dna-testing/

Hereditary Breast and Ovarian Cancer Awareness week

Although not typically a thing in Australia yet, in the United States, the month of September is ovarian cancer awareness month and October is breast cancer awareness month. The week in between these months has become the hereditary breast and ovarian cancer (HBOC) awareness week. The aim of HBOC awareness week is to raise awareness of hereditary breast and ovarian cancer and other related cancers. It also increases awareness of people with either a strong family history of these types of cancers or people or families with a genetic predisposition to breast and ovarian cancer, for example, having a gene change or mutation in BRCA1 or BRCA2 or other related genes. People with a gene change predisposing to cancer but who have not had cancer themselves are sometimes referred to as previvors as opposed to the cancer survivors who have had cancer.

Different support groups are conducting various events to mark the week. One such group is called FORCE and the link is below.

http://www.facingourrisk.org/get-involved/events/special-event.php

I have recorded a podcast, which will become live during this week to help raise awareness. I have three fantastic guests. They are Ellen Matlof from My Gene Counsel who is a certified genetic counselor in the USA. My second guest is a lady called Nicole who has recently found out that she has a BRCA2 mutation. She hasn’t had cancer herself but has a family history of cancer. My third guest is Krystal Barter who is the founder of Pink Hope and she has a BRCA1 mutation.

For more information about genetic counselling and testing for a predisposition to cancer, please see the following links:

https://rarediseases.org/rare-diseases/hereditary-breast-ovarian-cancer-syndrome/

http://www.genetics.edu.au/publications-and-resources/facts-sheets/fact-sheet-32-breast-and-ovarian-cancer-and-inherited-predisposition

Consanguinity

A few weeks ago I was contacted by a journalist who is writing a story about relationships between first cousins. She was curious to get a genetic counselor’s view on the issue. When two people have children together who are related, this is called consanguinity. This word comes from the Latin meaning from the same blood. In the Australian culture which heralds from the British Isles, marriage between first cousins is not common, is not encouraged and has a certain stigma surrounding it. However in other cultures, first cousin relationships are not only okay, but they are also actively encouraged. Having children with a relative like a cousin can even have advantages. “Keeping it in the family” so to speak. Families are already aware of what “they are getting into”. They understand each other’s background and financial backgrounds.

However, most people are cognizant of the fact that there can be a higher chance of having a child with an illness when one has children with a relative. This is due to what is known as recessive inheritance. Some conditions, such as Down syndrome, are linked to the mother’s age. The older the mother is at conception, the higher her chance of having a child with a chromosome problem. Dominant conditions can spontaneously occur, due to a fault or mutation in a gene in the egg or the sperm. The chance of this happening actually increases with the age of the father. However, when two people are related, they have a higher chance of both being carriers of the same recessive condition. All of our genes come in pairs; one from each parent. With recessive genetic conditions, an affected person has two copies of the same gene that is not working properly. Their parents who have one working and one non-working copy of the gene are known as carriers. Our relatives are more likely to be carriers of the same genetic conditions and this is why the rate of genetic conditions is higher in people who are born to first cousins.

What most people don’t realize though is that this risk still isn’t really high. The chance of any two unrelated people having a child with a medical problem is about 3%. When two people who are cousins have a child, their chance of having a child with a medical condition is doubled to 6%. So more than 90% of the time there are no problems. This is explained in more details in the fact sheet written by The Centre for Genetics Education, which I have shared the link below. Genetic counsellors are equipped with the knowledge and skills to help people who are seeking information regarding first cousin marriages. We provide this medical information in a non-judgmental way free from stigma. However, consanguinity is not to be confused with incest, which is sexual relations between close relatives such as siblings or parents and children. This is illegal. Consanguinity isn’t something that a lot of people this a lot about. But people in consanguineous relationships often think about it a lot. There can be guilt and shame associated with the stigma. I hope knowing a bit more about this topic can help diminish this.

Fact sheet

http://www.genetics.edu.au/publications-and-resources/facts-sheets/fact-sheet-18-when-parents-are-relatives-consanguinity

Lift for Li Fraumeni syndrome #Lift4LFS

Last week I was lucky enough to attend a conference called the “Familial Aspects of Cancer Research + Practice”. This annual conference is arranged by the Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer or kconfab for short. It is attended by scientists working in familial cancer from all over Australasia and the world and is also attended by genetic counsellors and doctors as well. There are presentations about many different aspects of cancer that runs through the family, but my favourite talk this year was by the Li Fraumeni association of Australasia.

Li Fraumeni syndrome (LFS) is a genetic condition where people with a gene change (mutation) in a gene called tp53 live with a high predisposition to developing cancer. People have a 50% chance of developing their first cancer by the age of 50 and up to a 100% chance of having cancer by the age of 80. LFS follows what is known as an autosomal dominant meaning that when a person with LFS has a child, there is a 50% or 1 in 2 chance of passing this changed gene on. The tp53 is often referred to as the “guardian” of the genome meaning that when there is a mistake or fault in this gene, it can have a devastating effect on the body.

The Li – Fraumeni Syndrome Association (LFSA) was created in the USA in 2010 as a way of providing and facilitating advocacy, support and information for those affected by LFS. The Australia and New Zealand chapter of the Li – Fraumeni Syndrome Association has recently launched. The mission of the LSFA is to bring together medical practitioners, researchers and scientists, patients and caregivers to further good research and care of individuals and families with LFS. Check out their video on youtube!

www.lfsassociation.org

www.kconfab.org

#lift4LFS

 

Factsheet:

https://rarediseases.org/rare-diseases/li-fraumeni-syndrome/

Resources:

http://www.geneticalliance.org.au/conditions_detail.php?Li-Fraumeni-syndrome-322

LFS video

https://www.youtube.com/watch?v=Bh3otLnixyg

Three Identical Strangers

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!

https://www.imdb.com/title/tt7664504/

Reciprocal Translocations

A translocation is the term used to describe a rearrangement of chromosome material between two or more chromosomes. There are two main types of translocations; reciprocal and Robertsonian translocations. In this blog piece, I will discuss reciprocal translocations.

In each of our body cells (excluding our egg or sperm cells) inside the nucleus we have 23 pairs of chromosomes. They are numbered 1 to 22 in descending order of size and the remaining pair of chromosomes are our sex chromosomes; XX for females and XY for males. A reciprocal translocation is where part of one chromosome breaks and exchanges with part of another chromosome, which has also broken off. Said another way, two chromosomes break and these broken pieces swap and join back together. When no genetic material is lost, this is said to be a balanced reciprocal translocation. Reciprocal translocations can involve any of the chromosomes.

Carriers of a balanced reciprocal translocation may not even be aware that they are carrying a chromosomal anomaly. Depending on the location of the break, if no interruption of the genetic information in the DNA code occurs, a carrier of a balanced translocation will have no symptoms and will not affect their development or health. However occasionally where the chromosomes break, if this is in the middle of an important gene, for example, the person may have some associated health issues. Most translocations are spontaneous, meaning, they occurred in the egg or the sperm that went on to create a person. However sometimes translocations can be inherited.

Balanced reciprocal translocation carriers are at risk of having chromosomes in their eggs or sperm with genetic material gained or lost and this could result in a pregnancy that has an unbalanced reciprocal translocation. Having extra or missing bits of chromosome can cause a wide variety of health problems including mild to severe health problems and developmental delay.

If someone is at risk of being a carrier of a balanced reciprocal translocation, they can have a genetic test examining their chromosomes. This test is called a karyotype and the scientists in the laboratory will be able to see if and where a translocation has occurred. A more detailed chromosome test called a microarray may also be ordered to see exactly where the breakpoints are and to see if any genetic material has been added or lost.

When a partner in a couple has a balanced translocation they may experience infertility or recurrent miscarriages. In some cases it may be possible to have Non Invasive Prenatal Testing (NIPT), which is a blood test on the pregnant mother from 10 weeks gestation, to see if the pregnancy has a translocation. In some cases NIPT is not possible. If this is the case, an invasive test during the pregnancy such as a chorionic villus sampling (CVS) or amniocentesis may be performed to examine the baby’s chromosomes.

Couples presenting for genetic counselling due to a reciprocal translocation can be challenging from a psychosocial point of view as well. Having long periods of infertility or miscarriage after miscarriage can be very taxing on couples. IVF is one technique that couples can utilize to increase their chances of having a baby. Other options would include donor egg, sperm or embryos or adoption.
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What is Genetic Counselling?

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.

Happy Friday

Matt Burgess
Consultant Genetic Counsellor

Genetic Condition – HFE – Hereditary Haemochromatosis

Genetic Condition – HFE – Hereditary Haemochromatosis

HFE – Hereditary Haemochromatosis is a common genetic condition in which sufferers have an abnormally high level of iron uptake into various organs in their body. It is an iron overload disorder. HFE – Hereditary Haemochromatosis was also known as Bronze diabetes in the past due to the colour that an affected person may turn without treatment. Early symptoms include weakness, fatigue, abdominal pain and weight loss. If left untreated, HFE – Hereditary Haemochromatosis can lead to skin discolouration, diabetes and heart problems.

 

Inheritance / genetic counselling

HFE – Hereditary Haemochromatosis follows an autosomal recessive pattern of inheritance. A personal affected with this condition has two faulty copies of their HFE gene; one inherited from their mother and the other from their father. If an affected person’s parents had one working copy of HFE and one copy with a mutation, they are referred to as being a carrier of HFE – Hereditary Haemochromatosis. A person with HFE – Hereditary Haemochromatosis can only pass on a faulty copy of the HFE gene meaning that all of their children will either be carriers if they inherit a working copy of the HFE gene from their other parent or at risk of developing the condition if they inherit a faulty copy of the HFE gene from each parent. Siblings of a person with HFE – Hereditary Haemochromatosis usually have a 25% risk of also having the condition, however if their parent also has the condition then 50% of their children are at risk.

 

Molecular genetics

This condition is due to a mutation in the HFE gene, which is located on the short arm of chromosome 6 at location 6p22.2. A gene is made of DNA and DNA is made of four chemicals referred to as bases (A, G, C & T). These bases combine together in a pattern to code for one of 20 amino acids. Amino acids strung together form a protein. There are three common mutations in the HFE gene; C282Y, H63D and S65C.

About 60 – 90% of people with two copies of the C282Y mutation will develop iron overload in their lifetime, whereas only about 5% of people with a C282Y and H63D combination will develop the condition. About 1% of people with two copies of H63D will go onto having iron overload.

 

Prevalence

HFE – Hereditary Haemochromatosis is the most common genetic condition in Australia and one of the most common genetic conditions in Caucasians. HFE – Hereditary Haemochromatosis is uncommon in people with African and Asian decent. HFE – Hereditary Haemochromatosis is more common in men than women.

 

Management

The most common treatment for HFE – Hereditary Haemochromatosis is blood letting to reduce iron levels in the blood.

 

Differential diagnoses

Not everyone with iron overload will have HFE – Hereditary Haemochromatosis. Other types of Hereditary Haemochromotosis include Juvenile hereditary haemochromotosis (also known as hereditary haemochromotosis type 2) and TFR2 – Hereditary Haemochromatosis.

 

Resources:

http://www.americanhs.org/

www.haemochromatosis.org.au

www.haemochromatosis.org.uk

http://www.genetics.edu.au/publications-and-resources/facts-sheets/fact-sheet-47-hereditary-haemochromatosis

 

 

 

 

Happy Australia Day

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.

https://www.insightgenomica.com.au/ancestry-testing/

Happy Friday!

Matt Burgess, Consultant Genetic Counsellor

New Year Resolutions

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”