Genetic Testing BRCA 1&2 , Need Guidan... - Breast Cancer India

Breast Cancer India

3,214 members1,467 posts

Genetic Testing BRCA 1&2 , Need Guidance......

Tanay profile image
9 Replies

I have been asked by my oncologist to do BRCA 1 & 2 Test due to strong family history of Breast Cancer.. It's not done in same hospital, it's only done at one Centre.. When I called them I got the information that they DONT DO ANY GENETIC CONSULTATION before the test, we just need to give blood sample at our own hospital , which they will come and collect , and give us report in 8 weeks time... Cost of this blood test is around 35000...

I read in Q& A session in the Pink Genes (hereditary Breast Cancer) that a Specialized GENETIC CONSULTATION is done.. Also Dr Sumeet has mentioned in one of the post that it is extremely essential to meet a genetic counsellor before going for genetic test.. So Dr pls advice , I should do the BRCA test here by just giving blood sample or I should get it done from outside the city?? Where they have proper genetics counselling facility...??

Also can I do it once I finish off with my radiation?? Since it takes 8 weeks for the report to come, will the Test Result make any difference in the hormonal treatment given ahead... Do I need to get it done on priority ?? Will there be any change my treatment?? Based on Test Results?? How soon this test needs to be done??

Pls Advice....

Written by
Tanay profile image
Tanay
To view profiles and participate in discussions please or .
Read more about...
9 Replies
sumeet_shah profile image
sumeet_shahAdministrator

Yes, it is EXTREMELY essential to undergo a consultation with a Genetic Counsellor before undergoing any form of Genetic testing for breast cancer, as there are very delicate decisions involved. This test is absolutely not to be done without counselling.

I will be meeting my colleague genetic counsellor in the next few days over a round table meet to discuss some new developments. I will surely ask her, as to where can we guide you, in Kerala, to undergo a counselling session and then testing.

I will keep you updated by the end of this week.

Tanay profile image
Tanay in reply tosumeet_shah

Thanks a lot Dr for providing this information....

Will surely wait for your update with regards to counselling centre in Kerala...

Also in month of MAY I might come to Mumbai for personal work , so is it advisable to get it done from TATA Hospital since it has a very good counselling facility??

Only concern is , its 3 months from now... Will it be too late to do the test?? As test results takes 8 weeks , result will come only by July.... Is there a time frame by which this BRCA TEST needs to be done???

Will there be any change in my hormonal treatment after Test Results??

manish_vkg profile image
manish_vkgTeamBCI in reply toTanay

Tanay BRCA test can be done later bcu even if u r positive for BRCA1 mutation..your line of treatment will remain same ...this test is generally done for the healthy person with strong family history to determine the possibility for breast cancer...dr. Shah if i m wrong plz correct me...

Tanay profile image
Tanay in reply tomanish_vkg

Thanks a lot Manish... Yes my mother had breast cancer at age of 58 years and my grand mother had at very young age of 26 years...

Gooseup profile image
Gooseup in reply toTanay

Hi Tanya

Can I get ur mail id plz?

roxboxfox profile image
roxboxfoxRadiationOncologist

The reason you have so many questions.. implies the importance of having a proper Pretest counselling by someone trained in this profession. There are increased risks of cancers in women positive for Brca 1 which have implications in further management not only for you, but also for your daughters and would be grand-daughters.....

In the short term, there are no major implications, like you would have the hormone therapy treatment for the same duration which a women who is negative which is usually 5 years. There will be risk of contralateral breast cancer, for which you may be adviced a prophylactic mastectomy to the contralateral breast.

You will certainly benefit from this counselling appt for sure.

Regards

Dr Rohit Malde

Tanay profile image
Tanay in reply toroxboxfox

Thanks a lot Dr Rohit and I completely agree and do understand the importance of Genetic counselling..

Infact I fail to understand why all the cities in India are NOT giving same importance to counselling and patients are left with so many questions.???

I was just told by my oncologist to do BRCA test and was given a letter addressed to a particular centre... On calling them I was told they only take blood sample & give report in 8 weeks... NO COUNCELLING... it was only BCOZ OF THIS FORUM that I realised that this is NOT THE RIGHT WAY to do the test... I even checked with 2-3 other big hospitals but even they don't have genetic counselling... My search is still on , as even I want to follow correct procedure.. Dr Summet also said that he will find out and guide me as to where can I go for counselling...

This Forum is really a great source of information and guidance.... Thanks to Dr Shah and Dr Rohit for all ur support...

roxboxfox profile image
roxboxfoxRadiationOncologist

Molecular Medicine Group of Reliance Life Sciences has developed a portal (relibrca.rellife.com).

I got BRCA 1/2 test for one my patients in June last year. It costed i think 48-50K ..not sure.

Fortunately my patient was negative and it was a big relief for her and she is doing well till date.

The RPG Lifescience people did a proper pre-genetic and post genetic counselling for my patients, and their service was excellent. rather than me answering a thousand questions which patients at times have, they did a fantastic job of having an hours counselling, which was satisfactory and patient friendly for them to understand. They offered information leafleats as well, for pts to refer back and read.

This laboratory is accredited by the National Accreditation Board for Laboratory and Callibration testing, New Delhi, as per ISO 15189: 2007, and the College of American Pathologists, USA, with the BRCA1/BRCA2 test approved by the national and international accreditation boards. But this has been tested for western women and there is very little data on INDIAN women.

The lifetime risk of developing breast cancer in BRCA1/BRCA2 mutation carriers is 85 percent, and ovarian cancers is 40 percent, as compared to lifetime risks of 12 percent in breast cancer and one percent in ovarian cancer in women, with no mutations in BRCA1 and BRCA2 genes.

Thats the reason Angelina Jolie got a bilateral mastectomy with reconstruction and probably has got rid of her ovaries (not published in newspapers so far) as well.

The Counsellor will tell you that though despite the fact your test is negative for BRCA1/2, this may not be 100% confirmatory as there are over 200 mutations in BRCA1/2 and not all tests would test for all these mutations.. They would probably go for the commonest ones... which cover 90 or 95% of the mutations.

Additionally there are other genes which may confer risk ..but are not tested. Here we are testing only for BRCA 1/2, which constitute again 95% of Hereditary breast cancers, the other genes like ATM Ataxia telangiectasia syndrome) , TP53 (Li Fraumeni Syndrome) , CHEK2, PTEN (Cowden Syndrome) , CDH1 (Hereditary Diffuse gastric syndrome) , STK11(Peutz Jeghers syndrome) , PALB2 are not tested, but their presence also increases risk of Breast cancers, besides other cancers.

It would be great if you could post your experience with BRCA testing and more information from this genetic counselling session, for the reference and benefit of other members.

Dr Rohit Malde MD, DNB, FRCR (UK)

Consultant Clinical & Radiation Oncologist

Dr Balabhai Nanavati Hospital

Vile Parle, Mumbai

Tanay profile image
Tanay

Thanks Dr Rohit for the detailed information and for ur guidance.. It was very helpful.... I referred the portal (relibrca.rellife.com) and even called them on 67678000 - Mumbai.. They said they don't have any centre in Kochi Kerala, and their present cost for BRCA 1&2 is 61600... so if I can't find any counselling centre in Kerala will get it done from them in May once I come to Mumbai...

Also as per ur advice, once I finish with my BRCA test will definitely post my experience from the session...

Thanks again for all ur help...

Not what you're looking for?

You may also like...

Brca testing

I got diagnosed with breast cancer this September and have gotten through my third chemo.I got...
Shweta11 profile image

Shikha's Story - Part II

Starting from where I left.... I started chemotherapy first week of April, 2008. My hair was...

Can mediclaim get rejected due to Her2Fish positive?

Hi All, My mother was diagnosed with breast cancer about five months back. Surgery was done at...
motiap profile image

FISH testing for HER2 2+ and 3+

I would like to talk about this, as time and again, I have been seeing people treated elsewhere,...
sumeet_shah profile image
Administrator

Need help - Wife diagnosed with 1 stage breast cancer

Recently diagnosed breast cancer - Hi all - hope you are doing good. 3 weeks back my wife...
JYTASH profile image

Moderation team

sumeet_shah profile image
sumeet_shahAdministrator
UpperHand profile image
UpperHandAdministrator

Content on HealthUnlocked does not replace the relationship between you and doctors or other healthcare professionals nor the advice you receive from them.

Never delay seeking advice or dialling emergency services because of something that you have read on HealthUnlocked.