Genetic Counselling: How much do you want to know? | Roberta Rizzo | TEDxUniversityofMalta

Summary

The speaker, a genetic counselor, shares their fascination with blue eyes, which led to a career in genetics. They explain that blue eyes are a recessive trait, and delve into the complexity of the human genome, comparing it to an instruction manual with 25,000 chapters or genes. The speaker discusses the implications of genetic testing, such as identifying predispositions to diseases like cancer, and the psychological impact of knowing genetic information. They highlight the importance of genetic counseling in helping families navigate the emotional and ethical considerations of genetic knowledge, especially with conditions like Huntington's disease. The talk concludes with a hopeful note on the evolving field of genetics and the potential of gene therapy.

Takeaways

• 👁️ The speaker's fascination with blue eyes sparked an interest in genetics, leading to a career in genetic counseling.
• 🧬 Blue eyes are a recessive trait, meaning both parents must carry the gene for it to be expressed in their children.
• 🧬 Genetic counseling helps families navigate the discovery of genetic traits and the implications they may have.
• 🧬 The human genome, our body's instruction manual, contains about 25,000 genes, with each gene having two copies.
• 🧬 The first human genome was sequenced in 2003, a monumental achievement that deciphered our DNA letter by letter.
• 🧬 Genetic testing can reveal a variety of information, from physical traits to potential health risks and conditions.
• 🧬 Angelina Jolie's public disclosure of her BRCA1 gene mutation and subsequent surgeries highlighted the impact of genetic information.
• 🧬 Genetic information can empower individuals to make informed decisions about their health and family planning.
• 🧬 The psychological impact of genetic information is significant, as it can cause anxiety, uncertainty, and a sense of responsibility.
• 🧬 Genetic counseling provides a space for individuals and families to consider the implications of genetic testing and make decisions that are right for them.
• 🧬 Advances in gene therapy and research offer hope for the future, with the potential to mitigate or delay the onset of genetic conditions.

Q & A

What is the significance of blue eyes in the context of genetics?

Blue eyes are a recessive trait in genetics, meaning that both parents must carry the gene for blue eyes to have a child with blue eyes. It's a curiosity that sparked the speaker's interest in genetics and led them to become a genetic counselor.

What is a genome and why is it important?

A genome is the complete set of genetic information in an organism, stored in DNA. It's important because it acts as an instruction manual for the body, determining traits like eye color, hair color, and how our organs function.

How many genes does the human genome contain?

The human genome contains approximately 25,000 genes, which are like chapters in the instruction manual of our body.

What was the significance of the first human genome sequencing in 2003?

The first human genome sequencing in 2003 was a milestone as it allowed scientists to decipher our DNA letter by letter, providing a foundational reference for understanding genetic variations and their implications on health.

What are some of the things that can be discovered from an individual's genome?

An individual's genome can reveal a wide range of information, from physical traits like eye color to predispositions for certain diseases, reactions to medications, and even the likelihood of developing conditions like cancer.

Why did Angelina Jolie undergo risk-reducing mastectomy and the removal of her ovaries and fallopian tubes?

Angelina Jolie underwent these procedures due to a genetic alteration in the BRCA1 gene, which significantly increased her risk of developing breast and ovarian cancer.

What role do genetic counselors play in helping families navigate genetic information?

Genetic counselors guide and support families through the complex process of understanding and dealing with genetic information, helping them make informed decisions about their health and family planning.

How does the knowledge of genetic predispositions impact an individual's life choices?

Knowing about genetic predispositions can lead individuals to make significant life choices, such as undergoing preventive surgeries, changing diets, or making family planning decisions.

What is the psychological impact of genetic information on individuals and families?

Genetic information can bring about a range of psychological responses, from empowerment and relief to anxiety, uncertainty, and guilt. It can also lead to difficult decisions about whether and how to share this information with family members.

Why might someone choose not to undergo genetic testing for conditions like Huntington's disease?

Some individuals might choose not to undergo genetic testing for incurable conditions like Huntington's disease because knowing they will develop the disease can be psychologically distressing, and there may be no medical interventions to prevent or delay the onset of the condition.

How is the field of genetics changing with the advent of gene therapy?

Gene therapy represents a significant advancement in the field of genetics, offering potential treatments and interventions for previously untreatable genetic conditions, providing hope and new possibilities for individuals and families affected by genetic diseases.