Melanoma – Are You At Risk?

Melanoma - Are You At Risk?

Transcript of Podcast Episode 5: Melanoma – Are You At Risk? Includes an interview with Jordan Hill, who had a melanoma at age 24.

Introduction

Welcome to the BRCA gene mutation and cancer awareness podcast.  I am Christina Henry of Midlifestylist.com.  I am a Registered Nurse with a BRCA2 gene mutation.  My podcast will raise awareness of BRCA 1 and 2 gene mutations and their link to an increased cancer risk.  BRCA gene mutations affect males and females equally, but there isn’t a lot of awareness in the community of the cancers that male carriers are at risk of.  My podcast aims to change that.  I will also discuss other topics of interest such as genetic counselling and testing, cancer screening and prophylactic surgery.  If you would like to know more about BRCA 1 and 2 gene mutations, this podcast is for you.  Thanks for joining me.

Melanoma – Are You At Risk?

Many people do not realise that a BRCA 2 gene mutation increases your risk of melanoma.  This episode is to raise awareness of melanoma, not just for BRCA2 mutation carriers, but for the general public as well.

Australia has one of the highest rates of melanoma in the world, with one person diagnosed every 30 minutes.  Melanoma is the deadliest form of skin cancer, and the most common cause of cancer in 15 to 39 year olds.  It is the third most common cancer in Australian men and women.

In the US, the lifetime risk of getting melanoma is about 2.6% (1 in 38) for whites, 0.1% (1 in 1000) for Blacks and 0.6% (1 in 167) for Hispanics.  For BRCA2 carriers, the risk is 3-5% in both males and females.

Family History of Melanoma and Genetic Mutations

Familial malignant melanoma is a genetic condition, usually identified when 2 or more first degree relatives such as a parent, sibling and/or child have a melanoma.  About 8% of people diagnosed with a melanoma have a first degree relative with one.  About 1-2% have 2 or more close relatives with a melanoma.  My family is high risk because my sister, brother and son have all had melanomas.

Two genes have been linked to familial melanoma – CDKN2A and CDK4.  A mutation in either of these genes increases your risk of melanoma, and may also increase your risk of pancreatic cancer.  Another gene, MC1R, is important for regulating pigment in the body.  Variations in this gene have been associated with freckling and red hair, and an increase in the risk for melanoma.

Xeroderma Pigmentosum (XP) is a rare disorder in which people have a mutation in a gene needed for repair of UV radiation induced DNA damage.  People with XP have an extremely high rate of skin cancer, including melanoma.  Scientists believe that there are other genes not yet identified that also increase the risk of melanoma.

Genetic Testing

Genetic testing for mutations in the CDKN2A gene is available.  However, genetic test results are unlikely to change care for people who have had melanoma or people with a strong family history of melanoma.  That is why the genetic counselor told me that there is a high probability of a genetic link for melanoma in my family, but there was little point in doing further testing to find it.  It wouldn’t alter the fact that my family needs ongoing screening.

Interview with Jordan Hill, Melanoma Survivor

Christina Henry, Interviewer with Jordan Hill, Melanoma survivor
Christina Henry, Interviewer with Jordan Hill, Melanoma survivor

My special guest today is my son Jordan Hill, who was diagnosed with a melanoma at age 24.  Welcome to my podcast, Jordan.

Jordan:  Thanks for having me.

Christina:  Can you tell us how you came to be diagnosed with a Stage 1 Melanoma at the age of 24?

J:  Well for several years you got me to go and have skin tests as a family and there were two or three doctors before we finally landed on this one at Mermaid Beach Practice.  They didn’t see anything wrong with this particular dot I had on my hand.  It started as a freckle.  Over time it started growing black and started looking really nasty.  I had random people come up to me in shops (because I work at Officeworks).  I had customers pointing out to me “Oh that doesn’t look very good” when I pointed out an item that they noticed on my hand and they commented on it.  I guess I never thought anything of it and for about two or three years it was like that. 

It was slowly getting worse and looking more black and violent.  So you started getting more checks done because we were still figuring out what it was.  So we had two skin doctors check and neither of them found anything wrong with it.  They just said it was nothing, and that it was no concern.  But the third skin doctor took one look at it and he zoomed up on it with this little device and it looked really gnarly.  So he took a biopsy out of it.  Within a few days I got a phone call and he said it was a Stage 1 Melanoma.

C:  What were the signs that this was not just an ordinary mole?  What did it look like compared to other moles?

J:  Well, all freckles are pretty faded and brown looking but this one started out as just a regular freckle but then over time it just went black and it was this black dot and it kept growing and growing.

C:  And it was jagged on the edge too wasn’t it?

J:  Yea

C:  I’ll put a photo up on my website Midlifestylist.com of how that melanoma looked.

What did the doctor actually do?

J:  Well he gave me a little local anaesthetic on the hand and he cut a little incision out of it.  It wasn’t so deep. It was only a little deep.  What I noticed when he had cut it out, there was still a tiny little black dot there.  When it was healing over the next week it wasn’t healing very well.  It was kind of struggling.  It was very “pussy” and I had to go back and get it cleaned.  But when it came back as a Stage 1 Melanoma I noticed that there was some black still there and so we needed a Plastic Surgeon to fully remove it and dig deeper into the tissues to make sure that it was all gone.

C:  So Jordan actually rang me.  I was on holiday in New Zealand and because, luckily I’m a nurse and I work with Plastic Surgeons I rang and made an appointment for Jordan to see a Plastic Surgeon that I knew.  He got him in the following week and within a week Jordan had plastic surgery to remove this.  They had to take a full thickness to remove the whole melanoma.  It’s about the size of a 50 cent piece and they had to take a graft from beneath his arm to cover that deficit.  So that can’t be just any doctor.  It had to be a plastic surgeon.  Once they did that the margins were clear.

My son's melanoma
My son’s melanoma before it was removed

So what kind of recovery did you need after that?

J:  It was a complete month off, not doing much with your hand basically.  They had a cast and bandaged up and everything.  I couldn’t move it.  I couldn’t do the things I usually do like work and play drums and guitar and all that.

But it gave me a lot of time off to think about how lucky I was to survive cancer basically.  And even though it didn’t look too threatening at the time, when I found out what it really was and what it entailed, and what it would have meant if it kept growing, because they said thankfully it was a very slow growing melanoma, if I’d left it for another year or two it would have gotten to a Stage 3 or 4 which is the deadly one where it spreads through the body, and I could have been dead basically by now.  So in that recovery time it gave me a second look on life and I feel much more grateful to be here because of that.

Jordan's hand showing the scar from the skin graft after his melanoma was removed
Jordan’s hand showing the scar from the skin graft after his melanoma was removed

C: Yea, it changes you hey?

J:  It does.  And because of that I now get my skin checked every six months and it doesn’t bother me.  I just go do it.  Even though the skin doctor I regularly go see says “oh, you don’t have to come back for another year or so”  I just go “No I still like to come every six months because I just like to be on top of it no matter what.”  It doesn’t phase me and it just makes me much happier to know that I’m free of any cancers on my skin.

C:  I took my kids to see the skin doctor from the time that they were really young and I know that that’s not a typical thing for people to do with children but because I work in that field of plastic surgery I’m quite paranoid about melanoma and skin cancer.  But also Jordan has very fair skin and red hair and that alone puts him at risk.  Plus the fact that his aunty and uncle both had melanomas.

J:  The thing was when I was about 10 or 12 I had cousins over for the day. We were in the pool all day in the sun and I had no sunscreen on, no shirt.  I remember how brutally bad I got sunburnt over my back.  That night you were just there putting all this cream and stuff on and it was the most painful …

C:  I put burn cream on but it was blistered .  I probably should have taken him to the Emergency Department at the hospital because he had second degree burns all over.

J:  Absolutely and I’ll never forget how brutally painful that was.

C:  I always kept the Silversadine Cream which is a burn cream on hand.  At the moment we use Solugel for any little sunburn or anything and it takes the redness away straight away.

What precautions do you take now to protect your skin?

J:  Well just going back to when I was sunburnt those many years ago I always from that point on always made sure I had some sunscreen or had jumpers on or hats just to make sure I’m as sun protected as possible.  If I was out in the open I’d try and find any shade possible and just try and make sure I was as under cover as possible, and not so much out in the sun.  But I think that it’s also too that the Australian sun is just much more stronger.  I went to Europe a few years ago and I barely got burnt and I was out in the sun almost every day.  I still put sunscreen on and everything and you can still get burnt but I find that in Australia the sun’s way more stronger and you can burn so easily. 

I can just walk out on the beach and within ten minutes I’d be burning and you could see I’m burning right in front of you.  But we also figured out too that, because I haven’t been really that sunburnt over the years, we figured out that the melanoma developed on the back of my hand from driving.  From the sun beaming in through the window.  You wouldn’t really think much of it but it makes sense.  That would be the only possible reason that I got the melanoma on the back of my hand.

C:  What advice would you give to other people?

J:  Definitely get your skin checked every couple of years at least.  If you’ve got fair skin like me or especially red hair at least once a year or two.  Just make sure you check your skin often.  If you notice weird bumps or weird changes to your freckles or anything just go and get them looked at.  It’s not worth just pondering around it because I never thought anything of the one I had and you know, I’d just get straight on to it.  I wouldn’t beat around the bush.

C:  And you’ve got to go to an actual skin doctor because they’re trained to look properly.

J:  They grab all these magnifying glasses and all this special equipment to look deep into any freckle or any mole and they can see all these different colours and they can tell whether it’s cancer or not straight away.

C:  They do mole mapping and he writes it all into his computer, any moles that he’s had a look at.  The one that we found that actually identified Jordan’s melanoma, we just stick with him.  We go to the same doctor every six months and he knows us.  He knows our skin.  He remembers lesions.  I point out everything, but I also check my skin regularly, more than once a week.  I’d say it was virtually every day.  I’m always having a good look on my skin.

J:  It doesn’t take that much effort to do it.

C:  Yea, but there’s areas that you can’t see yourself like your back and your scalp.

J:  Yea, that’s exactly why you go and get your skin checked.  It doesn’t matter about age as well, being 24 I didn’t think it would be a melanoma.  As a kid growing up you go to the doctor’s and you see all the skin charts with all the markings and stuff and you think it’s just what older people get and people in their 40s or 50s or older.  And while that is true, look, I was 24.  I never saw it coming.

C:  So that’s our message, to get your skin checked.  It doesn’t take long as Jordan said.  It’s a ten minute visit to your doctor regularly.  Especially if they’ve found any type of skin cancer in your family, that’s important:  to go get checked.  

Thank you Jordan, that was really great.

J:  No worries.

Screening for Melanoma

Anyone with a parent, sibling or child who has had a melanoma should be carefully monitored for melanoma themselves.  Skin examinations should be performed every 3 – 6 months by a specialist skin doctor to monitor any pigmented lesions.  It is important to watch moles closely for any signs of change in shape, size or colour.

Dermatologists may photograph moles, known as mole mapping, or view moles with a hand-held device called a dermatoscope.  This will assist the doctor to identify changes over time.  Any suspicious moles or other skin changes should be removed by a doctor so that the tissue can be analysed under a microscope.

Children should begin screening by age 10.  Regular self-examinations should be done monthly to look for skin changes.  

What to Look For

Moles are usually round or oval, an even coloured black, brown or tan spot on the skin.  They usually stay the same for many years.  Almost all moles are harmless, but any changes may indicate a melanoma is developing.  Look for any changes in shape, size or colour, or new moles on your skin. 

Watch for the following:

A – Asymmetry:  One half of the mole does not match the other;

B – Blurred:  The edges are irregular, ragged, notched or blurred;

C – The colour is not the same all over and may include different shades of black or brown, and sometimes have patches of pink, red, white or blue;

D – Diameter: The spot is larger than 6mm (4 inches) across, although some melanomas are smaller than this;

E – Evolving:  The spot is changing in size, shape or colour.

The ABCDEs Of Detecting Melanoma: Asymmetry, Border, Colour, Diameter, Evolving
The ABCDEs Of Detecting Melanoma: Asymmetry, Border, Colour, Diameter, Evolving

Other warning signs are:

  • A spot that doesn’t heal;
  • Spread of pigment from the border into the surrounding skin;
  • Redness or a new swelling beyond the border of the mole;
  • Change in sensation such as an itch, tenderness or pain;
  • Change in the surface of the mole:  scaliness, oozing, bleeding, or a lump.
Warning signs of melanoma:
A spot that doesn't heal
Spread of pigment from border into surrounding skin
Redness or new swelling beyond border of mole
Change in sensation e.g. itch, tenderness or pain
Change in surface of mole:  scaliness, oozing, bleeding or a lump
Warning Signs of Melanoma

Show your doctor any changes such as these.  A yearly (six monthly if you are high risk) specialist skin check should be done because they will thoroughly check all the areas you are unable to see yourself such as your scalp and back.  Melanomas can appear in unusual places such as inside your mouth or on the coloured part of your eye, so it is important to show your doctor anything that you are concerned about.

Avoid Skin Exposure to Ultra Violet Rays

People who are high risk should avoid sun exposure and take steps to protect themselves when outdoors.  Man-made UV rays such as tanning beds should be avoided.  They are banned in Australia but may still be available overseas.

Avoid manicures and pedicures that use UV rays to set the nail art.  They have been known to cause melanomas in the nail bed.  The curing lamps used to dry shellac and gel during manicures expose nails to UV rays.  The UV rays you receive during a manicure are brief but intense, four times stronger than the sun’s UV rays.  Only 1.4% of melanomas occur on finger or toe nails.  Watch for any darkening of skin around the nail, infections or nails lifting, sensitivity or nodules under the nail.

Protect Your Skin From the Sun

Remember to use sunscreen with a high SP factor, preferably 50 plus.  Cover all exposed skin while in the sun and remember you can still get burnt in the winter.  Wear a hat and avoid the sun during the hottest part of the day.  Protecting your skin from the sun helps you to avoid UV damage which may cause wrinkling and age spots, and expose you to developing melanoma and other skin cancers.

Thank you again to Jordan Hill for telling his story of how he was diagnosed with a melanoma at the age of 24.  Photos and more information will be on the website.

My next episode will focus on pancreatic cancer.  Many people, even those with a BRCA 1 or 2 gene mutation, are unaware of the increased risk of pancreatic and other cancers.  Because my dad passed away from pancreatic cancer it is a subject dear to me.  Thankyou for listening.

Outro

Do you want to learn more about BRCA gene mutations and cancer awareness?  Find me at Midlifestylist.com where you can read about this and living a healthy lifestyle.  Please subscribe to the podcast so that you don’t miss an episode.  If there is a topic you would like me to talk about you can contact me via Midlifestylist.com.  Thank you for listening.  

If you enjoyed this post please share on social media. You may also like to read:

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What To Do If You Are Diagnosed With a BRCA Gene Mutation

What to do if you are diagnosed with a BRCA Gene Mutation

Transcript of Podcast Episode 4

Welcome to the BRCA gene mutation and cancer awareness podcast.  I am Christina Henry of Midlifestylist.com.  I am a Registered Nurse with a BRCA2 gene mutation.  My podcast will raise awareness of BRCA 1 and 2 gene mutations and their link to an increased cancer risk.  BRCA gene mutations affect males and females equally, but there isn’t a lot of awareness in the community of the cancers that male carriers are at risk of.  My podcast aims to change that.  I will also discuss other topics of interest such as genetic counseling and testing, cancer screening and prophylactic surgery.  If you would like to know more about BRCA 1 and 2 gene mutations, this podcast is for you.  Thanks for joining me.

You Just Found Out You Have a BRCA Gene Mutation – what next?

You have had your appointment with the Genetic Counselor, as discussed in the last episode.  After an anxious wait, you are notified, usually by mail but sometimes by phone, that you have a BRCA 1 or 2 gene mutation.  You are probably reeling, and experiencing the full gamut of emotions like shock and grief.

My first thought was for my sons who are aged in their 20s.  Because they have a 50% chance of inheriting it from me, I thought I had given them a death sentence.  If you don’t have children but want them one day, you will be realising that starting your family now has become that much more complicated.

It is important to remember that a diagnosis of BRCA1 or 2 gene mutation does not mean you will definitely get cancer.  It does increase your risk, but other factors need to be considered as well.  Genetic testing tests for one mutation only.  Someone is either positive or negative – that cannot change over time.

Results will be one of the following:

Positive meaning the person carries the gene mutation.

Negative meaning they do not have that particular gene mutation.  It does not rule out mutations in other genes.  Breast and other cancers can still occur because most breast cancers are not hereditary.

Ambiguous or uncertain, meaning that a mutation has been found but it is not known whether that mutation has any affect on the chances of developing breast cancer.

If you are diagnosed positive of a BRCA1 or 2 or PALB2 gene mutation, you have a higher chance of developing breast cancer, and are more likely to develop it at a younger age.  Estimates vary depending on the source.  Women with BRCA1 or 2 mutation can have a 45-65% chance of being diagnosed with breast cancer before age 70.  PALB2 mutations have a 33% chance.

You can reduce your risk by doing the following:

Have regular health checks including examining your breasts monthly including if you are a male.  Early detection of breast cancer is of utmost importance.  A screening plan will be developed by your doctor including more frequent screening starting at a younger age.  You should have regular skin checks as well.  In my case it is six monthly because of the high risk of melanoma in my family.

Regular screening for females includes 6 monthly to yearly mammograms, ultrasounds and MRIs of your breasts.  Males should be screened for prostate cancer as well.

Reducing Your Risk

Your doctor may prescribe risk reducing medications.

An option many females are choosing is risk reduction surgery to remove breasts and ovaries.   Because the chances of developing breast cancer are so high, many women undergo prophylactic surgery to remove the breast tissue before cancer has a chance to develop.  This is called a bilateral prophylactic mastectomy.

Removal of ovaries and Fallopian tubes may also be done because this can reduce breast and ovarian cancer risk.  This procedure is called bilateral salpingo-oophrectomy.  Prophylactic surgeries reduce the risk by about 90% but they can’t eliminate the risk entirely.  Prophylactic surgery has other implications.  It can mean that fertility is affected if the ovaries are removed.

Making Decisions is an Individual Choice

All of these choices should be weighed up before you make any decisions.  Getting advice from medical professionals with experience in genetic risk is important.  It is also an individual choice – what is right for one person may not be right for someone else.  Results can impact many life decisions.  A genetic counselor can help you to look at the implications of your results.

The choices available to you may be limited to what is available in your area.  You may not live near to specialists who will do prophylactic surgery like mastectomies.  There has also been a delay in surgeries because of the pandemic.  Many hospitals are only able to treat patients with cancer at the present time, not high risk patients.  Because of social distancing some screening clinics have been affected in some areas.  This could mean delays which is really frustrating but it’s just one of the effects that the pandemic is having on life as we know it.

My advice is to do your own research.  Read as much information as you can.  Be informed so that when you do see medical specialists you have a good idea of what to ask.  Join support groups as well.  I learn a lot from other people in my position.  Links to support groups can be found on Midlifestylist.com. 

What Influenced My Decisions

Your decisions will be based on your individual circumstances.  For example, ten years ago I wouldn’t have done prophylactic surgeries because I was a single parent and did not have the means to have time off work or pay for the surgeries.  I had just been through some major heart issues so I was not up to going through anything else at the time.  When I was diagnosed with BRCA2 last year my sons were adults, I had a supportive husband and was more financially secure.  I was also in my 50s so I felt the pressure of not wanting to delay it any longer.  I had had nearly every member of my family diagnosed with cancer so the fear of cancer was foremost in my decisions.

The Impact Of A Positive Result on Other Family Members

Getting a positive result can also impact other members of your family.  I talked to my sons about what the implications of my positive result meant for them.  They both want children one day so their decisions around that would be affected if they also tested positive.  I told them that they would need to tell their future partner and that some women might not want to take the risk of having children with the gene mutation.  My sons’ main concern at the time was for me.  And naturally they were anxious about inheriting the gene mutation themselves.

I told my siblings and nephews very shortly after I told my sons.  My siblings have a 50% chance of inheriting BRCA2, and their children had a 25% chance based on my diagnosis.  I have not yet told many of my cousins who have a 25% chance of having the mutation.  This is because the last year has been very difficult for me due to multiple surgeries and a long recovery.  Now that I am past the worst of it I will let them know.  The cousins I have discussed it with so far would rather not know – many of them are head-in-the-sand types.  That is their choice but they also have a right to know so that they can research it and decide for themselves.

If you have recently been diagnosed with a gene mutation you might already have been in contact with a Family Health Centre.  You will probably receive referrals to a breast surgeon and gynaecologist.  You may feel like you are being rushed into making decisions.  Don’t rush your decisions, and get second opinions if you need to.

Worst case scenario and your diagnosis will come as a result of a cancer diagnosis of yourself or a close family member.  My heart goes out to you and it may seem superficial for me to say, but I do know how you feel.  It’s gut wrenching so I wish you all the best for the future.

Further Information

My next episode will focus on melanoma.  Many people, even those with a BRCA 1 or 2 gene mutation, are unaware of the increased risk of melanoma and other cancers.  My son Jordan was diagnosed with a melanoma at age 24.  He will be coming to the studio to talk about melanoma and share some important information that everyone should be aware of.  

For further information about BRCA gene mutation and cancer awareness, go to my website Midlifestylist.com and search BRCA.  You can also read about my personal journey with BRCA2 and prophylactic surgery on the website.  A transcript of this episode is available on the website.  You can contact me via Midlifestylist.com 

Outro

Do you want to learn more about BRCA gene mutations and cancer awareness?  Find me at Midlifestylist.com where you can read about this and living a healthy lifestyle.  Please subscribe to the podcast so that you don’t miss an episode.  If there is a topic you would like me to talk about you can contact me via Midlifestylist.com.  Thank you for listening.  

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How to Be Tested For a BRCA Gene Mutation

Cancer Awareness Ribbons in Multiple Colours

Transcript of Podcast Episode 3

Welcome to the BRCA gene mutation and cancer awareness podcast. I am Christina Henry of Midlifestylist.com. I am a Registered Nurse with a BRCA2 gene mutation. My podcast will raise awareness of BRCA 1 and 2 gene mutations and their link to an increased cancer risk. BRCA gene mutations affect males and females equally, but there isn’t a lot of awareness in the community of the cancers that male carriers are at risk of. My podcast aims to change that. I will also discuss other topics of interest such as genetic counseling and testing, cancer screening and prophylactic surgery. If you would like to know more about BRCA 1 and 2 gene mutations, this podcast is for you. Thanks for joining me.

Welcome to episode 3:  How to be tested for BRCA gene mutation

In the last episode I discussed how I came to be aware of the BRCA2 gene mutation in my family, and how I came to be tested.  I am now going to explain how to have genetic testing if you suspect that you have a genetic mutation in your family.

The first step is to look at your family’s health history.  In particular, ask yourself the following questions:

  • Have any of your blood relatives had cancer?
  • What types of cancer were they?
  • How old were your relatives when they developed cancer?

Are You at High Risk of a BRCA Gene Mutation?

A person is considered high risk of having a BRCA mutation if they have a family history of:

  • Breast cancer diagnosed before the age of 50;
  • Male breast cancer at any age;
  • Multiple relatives on the same side of the family with breast cancer, particularly first degree relatives (mother, sister, daughter);
  • Multiple breast cancers in the same woman, meaning breast cancer developing in both breasts over time or at the same time;
  • Both breast and ovarian cancer in the same woman;
  • A history of ovarian cancer in the woman’s family, especially if a first degree relative;
  • Ashkenazi Jewish heritage (they have a 2.5% chance of inheriting a BRCA mutation compared to 0.25% in the general population).

I have written an article on Midlifestylist.com called Know Your Family and Personal Health History.  I included a free health history form with a family tree so that you can get an idea of how to document your family’s health history.  It is important to look at both the males and the females as a BRCA gene mutation can be passed down through either line.

Genetic Testing at a Family Cancer Clinic

Genetic testing is free in Australia if a genetic mutation has been found in your family.  You will need your relative’s name and where they were tested.  You may have been given a copy of your relative’s results, or a letter from their genetic counsellor saying what genetic mutation they have.

Free genetic testing may be available if there is a strong family history of breast or ovarian cancer.  The genetic counsellor has to estimate that you have at least a 10% – 15% chance of having a faulty BRCA 1 or 2 gene in the family.  A relative that has had breast or ovarian cancer would need to be willing to have genetic testing.

Publicly funded testing is only available through a Family Cancer Clinic in Australia, not via a GP.  Family Cancer Clinics are based throughout Australia and are covered by Medicare.  Your GP will need to refer you to the clinic for Genetic Counselling first.

Referral for genetic testing at the Family Cancer Clinic will depend on whether the Genetic Counsellor assesses you and feels that there is a strong suspicion of a genetic mutation based on your family history. If you elect to pay privately it costs approximately $2000, which is not covered by Medicare or private insurance.

Private Genetic Counselling

Genetic Counsellors are also available privately in some cities.  My Genetic Counsellor is a medical consultant that I saw privately.  It did cost me to see him, but my actual test was free.  He saw my sons privately as well, and tested them free of charge.  I elected to see a private Genetic Counsellor because I had seen him previously and knew him professionally (I am a nurse).

Genetic testing is done via a blood test.  My sons and I had two separate blood tests 15 minutes apart.  The results were available after a few weeks.

Why You Should Avoid Do-It-Yourself Genetic Tests

I have read about do-it-yourself genetic tests available by mail order.  I strongly recommend that you don’t go down this route for a couple of different reasons.  First they may give you a false positive or a false negative.  It’s more likely to be a false positive which could lead to an anxious reaction for nothing.  

Secondly, having the discussion with the genetic counsellor is extremely important.  They are able to explain what your risks are, based on your family history. It is not the same for everyone.  Some families have a high number of prostate cancer cases, but a low number of breast cancer cases.  That is the case in my family.  

The implications of a diagnosis of a BRCA 1 or 2 gene mutation need to be carefully considered before you have testing.  This can only be explained by a medical professional trained in this field.  Please don’t take any shortcuts – I strongly advise you to get a referral to a Genetic Counsellor for these reasons.

Further Information

If you would like to read further about this, I have a link on Midlifestylist to Pink Hope.  They have an Assess Your Risk Tool on their website that can help you to work out whether you need to see a genetic counsellor or not.

I will be talking about what to do if you test positive for a BRCA 1 or 2 gene mutation in my next episode.  For further information about this and cancer awareness, go to my website Midlifestylist.com and search BRCA.  You can also read about my personal journey with BRCA2 and prophylactic surgery on the website.

Thank you for listening.  Please subscribe to the podcast so that you don’t miss an episode.  You can contact me via Midlifestylist.com 

Outro:

Do you want to learn more about BRCA gene mutations and cancer awareness? Find me at Midlifestylist.com where you can read about this and living a healthy lifestyle. Please subscribe to the podcast so that you don’t miss an episode. If there is a topic you would like me to talk about you can contact me via Midlifestylist.com. Thank you for listening.

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Introducing My New Resource Page and Podcast

A cell phone, diary and cup of coffee

Introducing My New Resource Page and Podcast for BRCA Gene Mutation and Cancer Awareness 

This week I launched my new resource page and podcast for BRCA Gene Mutation and Cancer Awareness.   BRCA 1 and 2 genes mutations increase the risk of several types of cancer in their carriers.  Because I have a BRCA 2 gene mutation I have an interest in this subject.

The resource page contains information about BRCA gene mutations and the cancers we are most at risk of: breast, ovarian, pancreatic, prostate and melanoma.   It covers my own personal journey since being diagnosed in February 2020.  

There are links to good sources of information including websites, books, documentaries and support groups.

My next project will be a podcast about BRCA gene mutations.  I am working on this currently and created a trailer which you can listen to here.  

The resource page and podcast are not only of interest to BRCA gene mutation carriers.  There is also information on regular health checks everyone should do, and being aware of your own risk of cancer and other diseases.

I would love you to take a look and tell me what you think.

https://midlifestylist.com/brca-gene-mutation-and-cancer-awareness/

Shared on Weekend Coffee Share Linkup on Natalie the Explorer’s blog and Life This Week Linkup on Denyse Whelan’s Blog

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