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About Genetic Counselling

Genetic counseling is the process of providing patients or their family members with information on the genetic contribution of a disease in order to facilitate autonomous decision-making and adapting to a genetic risk or condition. Counselees should be helped to adequately interpret and act upon the genetic information according to their personal values and beliefs. For patients with Aneurysms-Osteoarthritis syndrome, genetic counseling should focus on the variable clinical manifestations and potential aggressive disease course, the medical and psychological implications of genetic testing, and the possible effect on social and familial interactions.

FAQ's

What is Genetic Counselling?

Simply put, Genetic counseling is a conversation about genetics and how it can impact our lives. It is a process by which specialists (Genetic Counselors) help people to understand how genetic illnesses can affect them and their families and how they can cope with them

Who is a genetic counsellor?

They are Specialists, with training in both genetics and counselling who make sense of complex genetic information for you and convey it in simple language so that it is easy to understand. They provide personalized care for your genetic health.

What do genetic counsellors do?

• Discuss your family and medical history to understand the risk for occurrence of genetic conditions
Help you navigate the condition, from possible diagnosis, testing options, available management and treatment options
• Provide psychosocial support to help you and your family to cope with a diagnosis of a genetic condition
• Explain the results and help you process the medical and emotional implications of genetic testing
• Connect you to resources, support groups, other patients

When and why to see a genetic Counsellor?

You may consider genetic counselling if you have:

A personal or family history of

Genetic disorders: Numerous genetic disorders run in families like Thalassemia, Hemophilia, and Alzheimer’s, to name a few.

Birth defects: A new-born might show certain birth defects like Cleft Palate, Heart Defects, and Abnormal Limbs. Down syndrome is one of the most common genetic birth defects.

Chromosomal disorders: Few common examples are Down syndrome (Trisomy 21), Klinefelter Syndrome, Trisomy 18, 13, and Turner Syndrome.

Family history of hereditary cancers: About 5%-10% of all cases of cancers are inherited. A few examples are breast and ovarian cancer syndrome, and Lynch Syndrome.

A history of pregnancy losses (miscarriages), stillbirths, fertility issues, or abnormal pregnancy screening — ultrasound and blood test results.
Children with birth defects, developmental delay, intellectual disability, vision and hearing problems, or autism spectrum disorder.
Received results from direct-to-consumer genetic testing and want to discuss the results.

How is Genetic counselling helpful?

Understanding your risk factors for genetic disorders can be complex and difficult, but genetic counseling is meant to make it easier.
Genetic counseling helps you and your family recognize and adapt to genetic risk factors in an accurate and meaningful way.

Genetic Counselling can be helpful in

Planning a pregnancy: Before and during a pregnancy, genetic counseling can help you learn your risks to have a child with genetic medical conditions, which may involve pregnancy genetic testing. A genetic counselor can guide your doctors to address genetic concerns during a pregnancy, such as if birth defects on a prenatal ultrasound scan suggest a genetic condition in the baby.
Addressing a family history of genetic condition: If your child (or other relative) has a genetic condition or symptoms to suggest one, a genetic counselor can help you and your family learn about the diagnosis and/or the possibility of genetic testing. This includes a careful review of genetic test results, specialized medical recommendations and any risk factors to relatives.
Proactively managing health: Many medical conditions, like some forms of cancer and heart disease, have genetic links. Genetic counseling can help you proactively identify genetic risk factors, based on an expert review of your personal and family health histories. A genetic counselor can help you get appropriate genetic testing and address risks through personalized medical recommendations for you and your doctor to put into action.

How do I prepare to meet a genetic counsellor?

Share information such as your medical records, photographs and records of members of your family affected by the condition with your genetic counsellor prior to the session if possible.
Bring the results of any genetic tests you have previously had, as well as the results of genetic tests your family members have had.
Gather information about your family history.
Jot down a list of any queries or concerns you have before the meeting.
Bring your spouse/relative or friend to help support you.
Remember that it is just a conversation and talking to a genetic counsellor does not mean you “must” undergo a genetic test.

What happens in a genetic counselling session?

A typical genetic counselling session lasts from 30-60 minutes. In a genetic counselling session,
You talk about your feelings and concerns regarding your genetic condition.
Explore your family health history. Converse with the genetic counsellor to understand the risks.
Determine if genetic testing might be right for you – and if so, which tests – and explains what results might mean for you and your family.
Talk about decisions, if any, that may need to be made.
A genetic counsellor provides guidance and emotional support as you decide what to do.

What are genetic disorders?

These are disorders caused by changes or errors in genes, which may be inherited from one or both parents through generations.

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