What Is Genetic Screening and Counselling?

When cancer occurs in a family, it is natural to wonder whether there is a connection.

One woman may be diagnosed with ovarian cancer at a relatively young age. Another family may have several relatives with breast or ovarian cancer. In another family, uterine or colorectal cancer may appear across generations.

Sometimes these patterns happen by chance.

Sometimes they may be linked to an inherited genetic change that increases the risk of certain cancers.

Genetic counselling helps make sense of that possibility.

It is not simply a blood test.

Before testing, your personal and family history is reviewed to determine whether there is a reason to suspect an inherited cancer syndrome and whether genetic testing could provide useful information.

The discussion also covers what the result could mean for you and your family.

Why Does Genetic Risk Matter in Gynaecological Cancer?

Certain inherited genetic changes can increase the risk of developing gynaecological cancers.

One of the best-known examples involves changes in the BRCA1 and BRCA2 genes. Harmful inherited changes in these genes can increase the risk of breast and ovarian cancers, among others.

Another important inherited cancer syndrome is Lynch syndrome, which is associated with increased risks of colorectal cancer and endometrial cancer and can also be associated with other cancers.

Genetic risk can matter at different points.

If you have not had cancer, identifying an inherited risk may allow you and your doctors to discuss appropriate risk-reduction or surveillance strategies.

If you have already been diagnosed with cancer, genetic information may sometimes help guide treatment decisions and can provide useful information for your family.

Who Should Consider Genetic Counselling?

Genetic testing is not necessary for everyone.

A genetic risk assessment may be particularly relevant if you have:

• A personal history of ovarian cancer
• A personal history of certain types of breast cancer
• Endometrial cancer with findings suggesting Lynch syndrome
• Several relatives with breast or ovarian cancer
• A family member with a known harmful genetic variant
• Multiple relatives diagnosed with related cancers
• Cancer diagnosed at an unusually young age
• More than one primary cancer in the same person
• A family history suggestive of an inherited cancer syndrome

These are examples rather than a complete list.

The actual decision depends on your personal and family history and the genetic testing criteria being applied.

NCI notes that people with a personal history of ovarian, fallopian tube or primary peritoneal cancer, as well as people with certain personal or family histories of breast and other cancers, may be candidates for BRCA-related genetic assessment.

What Happens During Genetic Counselling?

Genetic counselling starts with a conversation.

You may be asked about:

• Your own cancer history
• The cancers diagnosed in your parents
• Siblings and children
• Grandparents, aunts and uncles
• The type of cancer each relative had
• Their age at diagnosis
• Whether anyone had more than one cancer
• Previous genetic testing in the family
• Relevant pathology or medical reports

A family history can sometimes provide important clues that are not obvious from one person's medical history alone.

If you have relatives who have had cancer, try to find out the exact cancer type and approximate age at diagnosis where possible.

A report from a relative's genetic test can also be particularly useful if one exists.

Does Having Cancer in the Family Mean I Have an Inherited Mutation?

No.

Cancer is common, and having one relative with cancer does not automatically mean that the cancer was inherited.

Genetic counsellors look for patterns that may suggest inherited risk.

For example, multiple relatives with related cancers, cancer occurring at younger ages than expected or a known inherited genetic variant in the family may increase the likelihood that genetic testing will be useful.

The purpose of counselling is to distinguish a family history that may warrant genetic assessment from one that may not.

What Genes Are Tested?

The genes tested depend on your personal and family history and the type of cancer being considered.

BRCA1 and BRCA2 are important examples in hereditary breast and ovarian cancer risk.

Other genes may also be included in a broader hereditary cancer panel.

For some families, genes associated with Lynch syndrome may be relevant.

There is no single genetic test that is appropriate for everyone.

The choice of test should be based on the suspected cancer syndrome and the information that would be clinically useful.

Amrita Hospital's Gynaecologic Oncology programme states that its genetic laboratory can test for a wide range of cancer-associated genetic mutations, including BRCA mutations.

What Is the Difference Between Genetic Testing and Genetic Counselling?

They are not the same thing.

Genetic counselling is the process of assessing your risk, discussing whether testing makes sense and explaining what different results could mean.

Genetic testing is the laboratory analysis performed to look for specific inherited genetic changes.

Counselling should ideally happen before testing so you understand what information the test may provide.

It is also important after the test because the result may have implications for your cancer risk, treatment or family members.

What Does a Genetic Test Involve?

Most inherited genetic testing is performed using a blood or saliva sample, depending on the laboratory and test being used.

The sample is analysed for genetic changes associated with inherited cancer risk.

The testing process itself is usually straightforward.

The more complicated part is understanding what the result means.

A test can produce different types of results, and they do not all have the same significance.

What Does a Positive Genetic Test Mean?

A positive result means that the test has identified a harmful or potentially harmful inherited genetic change associated with increased cancer risk.

It does not mean that you definitely have cancer.

It also does not mean that you definitely will develop cancer in the future.

For example, NCI explains that a harmful inherited BRCA1 or BRCA2 change increases cancer risk, but some people who carry such a change never develop cancer.

The result may, however, change the way your cancer risk is managed.

Depending on the gene and your personal circumstances, your doctor may discuss increased surveillance, preventive measures or other risk-reduction strategies.

What Does a Negative Genetic Test Mean?

A negative result means that the test did not identify a harmful genetic change among the genes and variants that were assessed.

But a negative result does not always mean that your cancer risk is the same as someone with no family history.

The meaning of a negative result depends on why the test was performed.

For example, if a known harmful variant has already been identified in your family and you test negative specifically for that variant, the interpretation is different from having a negative broad panel when no family mutation has previously been identified.

Your genetic counsellor can explain the result in the context of your family history.

What Is a Variant of Uncertain Significance?

Sometimes genetic testing finds a genetic change but there is not enough evidence to determine whether that change increases cancer risk.

This is called a variant of uncertain significance, or VUS.

A VUS is not the same as a positive cancer-risk result.

NCI notes that management decisions should not generally be based on a VUS alone. Instead, cancer-risk management should be guided by established risk factors and family history while the variant's significance remains uncertain.

This is one reason genetic counselling matters.

A genetic report can contain technical terminology that is difficult to interpret without specialist guidance.

Can Genetic Testing Tell Me If I Have Cancer?

Not by itself.

Genetic testing looks for inherited genetic changes associated with cancer risk.

It is different from a diagnostic test that determines whether a person currently has cancer.

If you have symptoms, an abnormal scan or another clinical concern, you may need separate diagnostic investigations.

Genetic testing answers a different question:

"Do I carry an inherited genetic change that may increase my risk of certain cancers?"

In someone who already has cancer, genetic information may also have implications for treatment and for relatives.

What Does Genetic Testing Mean for My Family?

An inherited genetic change can sometimes be passed from a parent to a child.

If a harmful inherited variant is identified, blood relatives may also have an increased chance of carrying the same variant.

This can give family members an opportunity to discuss their own risk with a healthcare professional.

But the result should not be shared or interpreted casually.

A genetic counsellor can explain:

• Which relatives may be relevant
• How inherited risk works
• Who may consider testing
• What a relative's result could mean
• What information should be shared with family members

NCI notes that genetic results can help blood relatives understand whether they may also carry an inherited cancer-risk variant.

Should I Get Genetic Testing Before or After Cancer Treatment?

There is no single answer.

For some women who have already been diagnosed with cancer, genetic testing can be relevant early in the treatment process because the result may have implications for treatment decisions or surgical discussions.

For someone without cancer but with a concerning family history, testing may be part of a risk-assessment process before any cancer develops.

The timing depends on why testing is being considered.

If you have recently been diagnosed with ovarian or another gynaecological cancer and have not discussed genetic risk, ask your treating team whether genetic counselling is appropriate.

Can Genetic Results Affect Cancer Treatment?

Sometimes.

Genetic information can have implications for treatment in certain cancers.

For example, inherited BRCA-related information can be relevant to treatment planning for some people with ovarian cancer.

The exact implications depend on the cancer type, stage, genetic finding and other tumour characteristics.

Genetic testing should therefore not be viewed only as a test for future cancer risk.

For someone who already has cancer, it may also provide information that contributes to treatment planning.

Genetic Testing for Ovarian Cancer

Ovarian cancer has a particularly important connection with hereditary cancer risk.

A personal diagnosis of ovarian cancer may itself be a reason to discuss genetic testing, depending on the specific clinical context and current testing criteria. NCI's BRCA guidance identifies personal history of ovarian, fallopian tube or primary peritoneal cancer among situations where inherited BRCA testing may be appropriate.

The reason this matters goes beyond the patient.

A positive inherited result may:

• Influence aspects of treatment planning
• Affect future cancer-risk management
• Help identify relatives who may also carry the variant
• Prompt appropriate risk-reduction discussions

Genetic Risk and Endometrial Cancer

Endometrial cancer can sometimes be associated with inherited conditions, particularly Lynch syndrome.

Not every woman with endometrial cancer has Lynch syndrome.

However, certain tumour findings or family-history patterns may prompt further assessment.

NCI-linked recommendations note that genetic testing may be considered for people with uterine or colorectal cancer when tumour screening results are abnormal or when personal and family history suggests Lynch syndrome.

If you have been diagnosed with endometrial cancer and there is a family history of colorectal, uterine or related cancers, ask whether genetic assessment may be appropriate.

Genetic Risk and Cervical Cancer

Most cervical cancers are associated with persistent high-risk HPV infection rather than inherited cancer syndromes.

Therefore, genetic testing is not routinely used simply because someone has cervical cancer.

Genetic counselling is more relevant when there are additional personal or family-history features suggesting an inherited cancer risk.

This distinction is important because not every cancer in the reproductive system has the same genetic cause.

What If Someone in My Family Already Has a Genetic Mutation?

If a blood relative has already been found to carry a harmful inherited genetic variant, tell your doctor or genetic counsellor.

This can make the genetic assessment much more specific.

If the exact familial variant is known, relatives may be offered testing to determine whether they carry the same change.

This is sometimes called cascade testing.

The result can help clarify which family members may have inherited the increased risk and which have not.

Genetic Screening for Women Without Cancer

Genetic counselling is not only for people who already have cancer.

A woman without cancer may consider genetic risk assessment if her family history suggests an increased likelihood of an inherited cancer syndrome.

For example, a family with several relatives affected by breast and ovarian cancers may warrant assessment.

The purpose is to identify whether there is a reason for genetic testing and, if a harmful inherited change is found, discuss appropriate risk management.

This may include closer surveillance or risk-reducing strategies depending on the specific gene and individual circumstances.

Can Genetic Testing Prevent Cancer?

The test itself does not prevent cancer.

But identifying an inherited risk can give a person information that may allow appropriate preventive action.

Depending on the genetic finding, age and personal circumstances, this can include:

• Earlier or more frequent screening
• Specialist surveillance
• Risk-reducing medication in selected situations
• Risk-reducing surgery in selected high-risk individuals
• Family testing

The appropriate strategy depends entirely on the genetic result and the individual's circumstances.

What Are the Limitations of Genetic Testing?

Genetic testing is powerful, but it does not answer every question.

A negative result cannot rule out every possible hereditary or non-hereditary cause of cancer.

A positive result does not tell you exactly when cancer will develop.

A VUS does not establish that cancer risk is increased.

The test also only looks at the genes and variants included in the particular test.

This is why a genetic report should be interpreted in the context of your medical history and family history.

Why Genetic Counselling Matters Before Testing

It can be tempting to order a genetic test online simply because cancer runs in your family.

But choosing the wrong test can create confusion rather than clarity.

A genetic counsellor can help determine:

• Whether testing is appropriate
• Which test may provide useful information
• What the possible results mean
• What the result could mean for your family
• What medical decisions could potentially follow

NCI recommends discussing the benefits and possible downsides of genetic testing with a healthcare provider or genetic counsellor before testing.

What Should You Bring to a Genetic Counselling Appointment?

If possible, bring information about your family's cancer history.

Useful details include:

• Name or relationship of the affected relative
• Type of cancer
• Approximate age at diagnosis
• Whether they had more than one cancer
• Previous genetic testing
• Genetic reports if available
• Your own pathology reports if you have cancer
• Previous scan and treatment records

You do not need to know every detail of your family history before making an appointment.

Even an incomplete history can be discussed during the consultation.

Genetic Screening and Counselling in Kochi With Dr. Priya Bhati

Genetic cancer risk can raise difficult questions.

If a family member has had ovarian cancer, if several relatives have had breast cancer or if you have been diagnosed with ovarian or endometrial cancer yourself, you may wonder whether there is an inherited reason behind it.

Dr. Priya Bhati is an Associate Professor in Gynaecologic Oncology at Amrita Hospital, Kochi, with an MCh in Gynaecologic Oncology from Christian Medical College, Vellore. Her practice includes gynaecologic cancer care and preventive gynaecologic oncology.

Amrita's Gynaecologic Oncology programme has dedicated genetic counselling support and access to genetic testing for inherited cancer risks, including BRCA-related mutations. Genetic counsellors work with patients to assess inherited cancer risk and help them understand the implications for themselves and their families.

A consultation can help determine whether your personal or family history warrants genetic assessment and what information may be useful before testing.

When Should You Consider Genetic Counselling?

You may want to discuss genetic counselling if:

• You have been diagnosed with ovarian cancer
• You have been diagnosed with certain types of endometrial cancer
• Several close relatives have had breast or ovarian cancer
• Cancer has occurred at a younger age in your family
• A family member has a known cancer-related genetic mutation
• Your family has a pattern of breast, ovarian, uterine or colorectal cancers
• You have had more than one type of cancer
• You are concerned about inherited cancer risk despite having no cancer yourself
• You want to understand whether your children or siblings could be at increased risk

You do not need to wait until another family member develops cancer before asking about your risk.

Genetic Screening Is About More Than One Test

The value of genetic counselling is not simply receiving a laboratory report.

It is about understanding the reason for testing, what the result means and what you can do with that information.

For some women, testing may provide reassurance.

For others, it may identify an inherited risk that changes future surveillance or prevention.

For women who already have cancer, the information may also contribute to treatment planning.

And for families, one person's result may provide useful information for other blood relatives.

Understand Your Family's Cancer Risk

If you are concerned about hereditary cancer or have been advised to consider genetic testing, speak with a specialist before making a decision.

Book a Genetic Counselling Consultation

FREQUENTLY ASKED QUESTIONS

1. What is genetic screening?

Genetic screening or testing looks for inherited changes in specific genes that may increase a person's risk of developing certain cancers. The appropriate test depends on personal and family history.

2. What is genetic counselling?

Genetic counselling is a consultation in which your personal and family cancer history is reviewed to assess inherited cancer risk and determine whether genetic testing may be appropriate.

3. Who should consider genetic testing for cancer risk?

People with certain personal or family histories of ovarian, breast, endometrial, colorectal and other cancers may be candidates for genetic assessment. The exact criteria depend on the cancer pattern and current clinical guidance.

4. Does everyone with a family history of cancer need genetic testing?

No. A family history does not automatically mean that genetic testing is necessary. Genetic counselling can help determine whether the pattern of cancer in your family suggests an inherited risk.

5. What genes are commonly tested for hereditary cancer?

BRCA1 and BRCA2 are well-known genes associated with hereditary breast and ovarian cancer risk. Other genes may be tested depending on the suspected hereditary cancer syndrome.

6. What does a positive genetic test mean?

A positive result may mean that a harmful inherited genetic change has been identified. It can indicate increased risk for certain cancers but does not mean that you definitely have cancer or will definitely develop cancer.

7. What does a negative genetic test mean?

A negative result means that the test did not identify a harmful genetic change among the genes and variants assessed. The significance of a negative result depends on your family history and why testing was performed.

8. What is a VUS in genetic testing?

VUS means "variant of uncertain significance." It describes a genetic change for which there is not enough evidence to determine whether it affects cancer risk. A VUS should not automatically be treated as a harmful mutation.

9. Can genetic testing tell me whether I currently have cancer?

No. Genetic testing assesses inherited cancer risk. It is different from diagnostic tests used to determine whether cancer is currently present.

10. Can genetic testing affect my cancer treatment?

In some cancers, genetic findings can provide information relevant to treatment decisions. The significance depends on the cancer type, stage and specific genetic result.

11. Can genetic testing help my children?

If an inherited harmful genetic change is identified, adult blood relatives may be able to discuss their own risk and testing options with a genetic counsellor.

12. If my mother had ovarian cancer, should I get genetic testing?

A mother's history of ovarian cancer can be relevant to hereditary cancer risk assessment. Whether you should have testing depends on the wider family history and other factors, so genetic counselling is a useful first step.

13. Can men be tested for BRCA mutations?

Yes. Inherited BRCA changes can affect men as well as women. Men who carry certain harmful BRCA variants can have increased risks for particular cancers and may pass the variant to their children.

14. Can I have genetic testing if I do not have cancer?

Yes. People without cancer may undergo genetic counselling and testing when their personal or family history suggests an increased inherited cancer risk.

15. Is genetic testing done with a blood test?

Many inherited genetic tests use a blood sample, although some tests may use saliva or another sample depending on the laboratory.

16. Should I get genetic counselling before testing?

Yes, discussing testing with a genetic counsellor or appropriate healthcare professional beforehand can help you understand why testing is being considered, what the possible results mean and what decisions could follow.

17. What should I bring to genetic counselling?

Bring any available cancer reports from affected relatives, previous genetic test results and information about the type and age of cancer diagnosed in family members. Your own medical records are also useful if you have had cancer.

18. Can genetic testing prevent cancer?

The test itself does not prevent cancer. However, identifying an inherited risk may allow appropriate surveillance or risk-reduction strategies to be discussed.

19. What is Lynch syndrome?

Lynch syndrome is an inherited cancer syndrome associated with increased risks of colorectal and endometrial cancers and several other cancers. Genetic assessment may be considered when personal, tumour or family-history findings suggest the syndrome.

20. Where can I get genetic counselling in Kochi?

Amrita Hospital's Gynaecologic Oncology programme in Kochi provides dedicated genetic counselling and genetic testing services for inherited cancer risk, including BRCA-related testing.