Genetic testing is a very different name for patients & patients relative who are suffered from Breast cancer and also they want to know the risk of developing breast cancer and other cancers in lifetime.
To understand Genetic testing someone should understand the basics that is –
• A gene- A unit which determines charatcterstic of offspring when transferred from a parent to offspring.
• Mutation- Change of structure of gene which results in a different variant form that may be transmitted to subsequent generations.
So genetic testing is basically about inherited cancer risk. It is basically related to two important genes BRCA1/2. Hollywood actress Angelina Jolie’s story had brought light on this test and made this test an area of public interest. Here I Dr Shilpy Dolas breast doctor in pune will explain you this topic in a very concise manner
So the question comes in someones mind
Que: What is the relation of genetic testing and Breast cancer?
Ans: Genetic testing is basically done by a doctor trained in genetic counselling as well as able to tell all the options post testing.
Basically genetic testing tests the risk of an individual who suffered from cancer or who has got strong family history.
Que: Who can go for Genetic testing?
1) Someone who has got cancer in the past or present.
2) Strong family history
Que: Age for Genetic testing and why?
Ans: Not to be done in children < 18 year as results would not impact medical management
Que: Details of process of Genetic testing?
Ans: Genetic testing involves multiple steps including-
• Genetic counselling
• Genetic testing
• Post test Counselling
Is done by an Oncosurgeon, Oncologist, genetic Counsellar, who took expertise in doing so. Dr ShilpyDolas a breast doctor in pune will counsel her patients as an expert breast oncoplastic surgeon who seek for a good counsellar.
The purpose of Breast cancer genetic Counselling is to educate an individual about the genetic, biological and environmental factors which are related to individuals cancer diagnosis or risk for disease.
So that they will get empowerment to make and informed decisions after genetic, testing and cancer screening with prevention.
Pre Test Genetic counselling-
Is based on informed consent principle. Our breast doctor in pune will take consent after counselling and do all needful protocols
A discussion of confidentiality issues should include GINA act.
During genetic counselling doctor take detailed relevant clinical, medical, familial history after that he or she make a pedigree chart. Sometimes a computer model may be used for Hereditary Breast or Breast/ ovarian Syndrome.
Here after consent patients Blood/ Saliva sample collected
Genetic lab offers-
SINGLE GENE TESTING- Breast cancer specific gene testing
BRCA ½ which is of lesser cost as compare to multigene test.
BRCA 1/2, ATM, BARD1, CHEK2, PALB2, Tp53, STK11, CDH1, PTEN.
Multigene testing benefits are more for Heriditary forms of cancer who identifies at risk patients and their family members.
This test may detect pathogenic or pathogenic variants not found in single gene testing.
Once the report is generated it basically goes to concerned doctor and patient. Report usually describes absence or presence of mutation.
Post Test Counselling-
Upto 10% of Breast Cancers are due to specific mutations in single genes that are passed down in family.
Those specific patterns which are linked to specific genes are identified with the help of genetic tests. Once tests results are discuss risk reducing measures with doctor.
Que: Is Genetic testing costly?
Ans: Previously when genetic testing was not done in India it used to be very costly. But now the cost of testing has lowered. It will costs around 15000-50000 depending upon the additional data. Once one familial mutation identified others can be tested with discounted rates.
Que: What is BRCA Testing?
Ans: BRCA is a gene, basicallyBRCA testing is done to findout mutations in Breast cancer gene BRCA 1 or 2. A blood test in which DNA analysis is done to identify harmful changes in BRCA genes. It determines individual risk of having Breast and Ovarian cancer. To do this test meet breast doctor in pune Dr ShilpyDolas at Heart and breast care clinic / ruby Hall Clinic pune / Aditya Birla Hospital pune or send a msg and fix an appointment with her to meet for genetic cunselling and testing.
Que: Why BRCA testing is done?
Ans: When someone has got strong family history of cancer or young women with triple negative breast cancer or ovarian cancer. A good doctor like to find out responsible gene that’s why BRCA testing in the form of single gene or Multigene offered to patients.
Que: Is there any benefit of doing BRCA testing?
Our breast doctor in pune Dr ShilpyDolas will do genetic counselling and explain benefits of doing this test.
If someones test came positive doctor will explain their chances of developing Breast and Ovarian cancer in future. Those patients can take precautionary measures. One who is already taking breast cancer treatment for one breast can be offered for prophylactic mastectomy and oophorectomy to decrease chances of further cancer in future.
Risk reducing Surgeries causes increased surveillances like prophylactic Nipple / Skin sparing Mastectomy, Bilateral salpingo-oopherectomy.