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DO YOU NEED GENETIC COUNSELING?

PRECONCEPTION OR IN EARLY PREGNANCY –

Infertility, multiple abortions, still births, previous child with intellectual disability/ short stature or learning disability, with suspected genetic disorder, advanced maternal age, pregnancy with positive triple/ quadruple test, fetus diagnosed with congenital malformation, marriage in blood relatives or couple being known carriers for genetic disorder i.e. thalassemia.

IN PAEDIATRIC AGE GROUP –

Developmental delay, intellectual disability, autism, congenital malformations (congenital heart disease, cleft lip and /or palate), short stature etc.

IN ADULTS –

Familial or early onset of cancer, multiple family members affected similar type of symptoms etc.

Timely diagnosis and intervention may help to prevent future recurrences in the family.

In cases of cancers, it might help you in deciding prophylactic and treatment options.

Consultation with a medical geneticist should be done in a timely manner, so that appropriate genetic work-up may be planned.

Dr. Meenal Agarwal

MD (Obstetrics and Gynecology), DM (Medical Genetics)

Consultant Medical Geneticist

Genetics Clinic, Every Saturday 10:00 am to 12:00 pm

Call on – 9881123006

Dr. Chaitanya Datar : Honorary Consultant

Genetic counseling in cancer, do you need it ?

Q1. How is cancer related to genes?

Cancer is caused by changes in genes inside our cells, which control how our body function. Genes are formed by chemical material called DNA. Abnormal changes in these genes are called as mutations. Mutations in many different genes are usually needed to cause any type of cancer in a single individual. These genes are mainly related normal growth and differentiation of cells. Abnormal function of these genes results in uncontrolled growth of tissue and finally in cancer.

Q2. What is genetic testing? What are the types of tissue used for genetic tests?

Genetic testing is the use of medical tests to look for certain mutations in a person’s genes. These tests can sometimes give information on a person’s outlook (prognosis) and help tell whether certain types of treatment (radiotherapy, chemotherapy or surgery) might be useful. In this situation, your doctor might suggest you to do tests on a sample of biopsy/ FFPE block (which contains cells from the cancer tissue) to look for certain gene changes. These types of tests look for acquired gene changes only in the cancer cells that are taken from the patient. Predictive genetic testing is the type of testing used to look for inherited gene mutations that might put a person at higher risk of getting certain kinds of cancer. For inherited cancer, testing is usually performed on the blood. Most people (even people with cancer) do not need this type of genetic testing. It’s usually done when family history suggests there’s a cancer that may be inherited.

Q3. Can cancer run in the family?

Most of the times, in a family, there is only one individual affected with a particular type of cancer. In these individuals, genetic changes occur during person’s lifetime (acquired DNA changes, like smoking) and not passed on to the future generations. In about 5-10% of the families however, more than one individual might have history of the same or related cancers. These may be due to common environmental factors in the particular family. In some of these cases, cancer are caused by changes/ mutations in certain genes, which are passed from one generation to other generation and poses the significantly high risk for a particular type of cancer for that family.

Q4. Who needs genetic testing for hereditary cancer predisposition?

Generally any person with cancer or family history of cancer may opt for genetic testing after appropriate pre-test genetic counseling. Usually it is required when (1) Several first-degree relatives (mother, father, sisters, brothers, children) with cancer (2) Many relatives on one side of the family who have had the same type of cancer (3) A particular type of cancers in your family that are known to be linked to a single gene mutation (4) A family member with >1 type of cancer (5) Family members who had cancer at a younger age than normal for that type of cancer (6) A family member with a rare cancer, such as breast cancer in a male or retinoblastoma (7) A physical finding that’s linked to an inherited cancer (such as having many colon polyps) (9) A known genetic mutation in one or more family members who have already had genetic testing. Genetic testing is not perfect, and for some people the tests may not provide clear answers. This is why meeting with a genetic counselor or cancer genetics professional is important before deciding to be tested.

Q5. How genetic counseling help in taking informed decisions?

The purpose of genetic counseling is to give you information in an unbiased or neutral way, so that you and your family can make your own decisions about whether to get tested. The counselor will explain how families inherit cancers and how genes are passed on to children. They will also talk about the types of cancer seen in the family and estimates of the person’s cancer risk. The pros and cons, cost, and limits of testing are discussed too, as well as who in the family should consider being tested.

Q6 What are the probable outcomes, if I opt for genetic testing? What are the implications?

The genetic test may have different outcomes. These include:

1) Test has failed to identify any relevant genetic variant (negative) – Your geneticist/ oncologist might suggest a next tier test or You are at population based background risk of acquiring (or recurrence) cancer.

2) It has identified a pathogenic/ likely pathogenic, which might be responsible for hereditary predispositionto cancer- Your oncologist may modify treatment and surveillance strategies. Your family members might be at risk, who can opt for presymptomatic genetic testing

3) Report gives ambiguous results in form of “variants of unknown significance” – In this case no definite management strategies can be applied. Treatment will depend upon on other parameters. The utility of screening of family members is also limited. Your oncologist or geneticist might suggest a next tier testing.

Q7. What is presymptomatic genetic testing ?

For asymptomatic family members of a person, known to have an mutation in one of the genes that increases cancer risk, genetic testing can help them knowthe best ways to manage it. These may include lifestyle changes, early detection, watching for signs and symptoms of cancer, medicines to reduce cancer risk, or even preventive surgery. In families known to have one of these inherited syndromes, family members who decide not to get tested are still usually advised to start being screened for a particular cancer at an early age, and to get screened more often.

Q8. What is cancer screening?

Screening is the process of looking for cancer or pre-cancer state in an individual who has no symptoms of the cancer. Regular cancer screening is one of the most powerful strategy for early detection of cancer. There are several different screening options available depending upon type of inherited cancer syndrome or targeted tissue type. Like self-breast examination for breast cancer, colonoscopy for colorectal cancer, MRI for abdominal cancers etc…