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.

Outlines

00:00

🧬 The Fascination with Genetics

The speaker begins by expressing their fascination with blue eyes, a trait they inherited despite neither parent having blue eyes. This curiosity led them to the field of genetics and genetic counseling. They explain that blue eyes are a recessive trait, and their parents could have been carriers. As a genetic counselor, the speaker's role is to guide families through the discovery of genetic traits and their implications. The speaker delves into the basics of genetics, explaining that our genome, contained within every cell, acts as an instruction manual for our body's functions. The human genome was first sequenced in 2003, a monumental achievement that has allowed for the comparison of DNA to identify variations and predispositions to certain conditions. The speaker also touches on the psychological aspects of genetic information, noting that while some seek it for the power to make life-changing decisions, others may find it anxiety-inducing due to the responsibility of sharing such knowledge.

05:00

🧬 The Impact of Genetic Counseling

The speaker discusses the psychological impact of genetic information, emphasizing that while knowledge can empower individuals to make life-changing choices, it can also bring anxiety and uncertainty. They highlight the importance of genetic counseling in providing families with the space to make informed decisions. The speaker references Angelina Jolie's public disclosure of her BRCA1 genetic mutation and the subsequent preventive measures she took, illustrating the real-world implications of genetic testing. They also mention how genetic information can influence family planning and the availability of life-saving interventions. The speaker shares insights from a study on Huntington's disease, a debilitating condition with no cure, and the varying attitudes towards genetic testing for such conditions. They conclude by emphasizing the evolving nature of genetics and the hope that research and gene therapy offer, particularly with the advent of new treatments that can delay the onset of conditions like Huntington's.

10:01

🧬 The Role of Genetic Counseling in Family Decisions

In the final paragraph, the speaker reflects on the multifaceted nature of decisions regarding genetic information within families. They stress the importance of genetic counseling in helping individuals consider their beliefs and family narratives before deciding to learn about genetic risks. The speaker acknowledges the evolving field of genetics and the hope it brings, as well as the role of genetic counselors in providing guidance and support. The speaker concludes by expressing hope that their talk has sparked curiosity and encouraged questions about the implications of genetic knowledge.

Keywords

💡Blue eyes

Blue eyes are a recessive genetic trait, meaning that an individual must inherit two copies of the gene responsible for blue eyes (one from each parent) to have blue eyes themselves. In the video, the speaker's fascination with their own blue eyes sparked their interest in genetics. This curiosity led them to become a genetic counselor, highlighting how personal traits can inspire a deeper exploration of one's genetic heritage.

💡Genetics

Genetics is the study of genes, genetic variation, and heredity in living organisms. The video emphasizes the role of genetics in determining physical traits like eye color and in understanding the risk of certain diseases. The speaker's journey into genetic counseling was driven by a personal interest in how genetics shapes individual and familial characteristics.

💡Genome

The genome refers to the complete set of genetic information in an organism, encoded in its DNA. The video describes the human genome as an 'instruction manual' for the body, with approximately 25,000 genes that dictate various physical and functional traits. The speaker uses the genome as a metaphor to explain the complexity and importance of genetic information in understanding health and disease.

💡DNA

DNA, or deoxyribonucleic acid, is the molecule that carries genetic instructions for the development, functioning, and reproduction of all known living organisms. The video script mentions DNA as the substance that, when sequenced, reveals the human genome. DNA sequencing is a critical tool in genetic counseling, allowing for the identification of genetic traits and potential health risks.

💡Recessive trait

A recessive trait is a characteristic that is only expressed when an individual inherits two copies of the gene responsible for that trait, one from each parent. The video uses blue eyes as an example of a recessive trait, explaining that while the speaker's parents may not have blue eyes, they could be carriers of the gene, thus passing on the potential for blue eyes to their offspring.

💡Genetic counseling

Genetic counseling is the process of helping individuals understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. The speaker, as a genetic counselor, guides families through the complexities of genetic testing and the discovery of genetic traits, emphasizing the importance of informed decision-making in the face of genetic information.

💡BRCA1

BRCA1 is a gene that, when altered, can significantly increase a person's risk of developing breast and ovarian cancer. The video references Angelina Jolie's public disclosure of her BRCA1 genetic alteration and her subsequent decision to undergo preventive surgery. This example illustrates the profound personal and medical decisions that can be influenced by genetic testing.

💡Genetic testing

Genetic testing is a type of DNA analysis that identifies changes in chromosomes, genes, or proteins. The video discusses how genetic testing can reveal predispositions to certain conditions, such as high cholesterol or cancer, and can inform medical interventions like screening, surgery, and medication. It also touches on the psychological impact of such testing, as individuals must grapple with the implications of their genetic information.

💡Huntington's disease

Huntington's disease is a hereditary neurodegenerative disorder that causes the progressive breakdown of nerve cells in the brain. The video uses Huntington's disease to illustrate the ethical and psychological challenges of genetic testing for conditions that currently have no cure. It highlights the importance of genetic counseling in helping individuals and families navigate the complex emotions and decisions associated with such diagnoses.

💡Gene therapy

Gene therapy is an experimental technique that uses genes to treat or prevent disease. The video mentions the emerging field of gene therapy in relation to Huntington's disease, suggesting that future treatments may mitigate symptoms or delay the onset of the condition. This highlights the dynamic nature of genetic research and its potential to transform the landscape of genetic counseling and patient care.

💡Genetic predisposition

Genetic predisposition refers to the increased likelihood of developing a particular health condition based on an individual's genetic makeup. The video discusses how genetic testing can reveal predispositions to various conditions, allowing for proactive medical and lifestyle interventions. Understanding genetic predispositions is central to the work of genetic counselors, who help individuals interpret and act on this information.

Highlights

The speaker's fascination with blue eyes led to a passion for genetics and a career in genetic counseling.

Blue eyes are a recessive trait, meaning both parents must carry the gene for it to be expressed in the child.

Genetic counselors guide families through the discovery of genetic traits and their implications.

Every cell in the human body contains DNA, which is the instruction manual for how the body functions.

The human genome consists of approximately 25,000 genes, with each person having two copies of each gene.

The first human genome was sequenced in 2003 after a decade of work and billions of dollars spent.

The genome is a collection of 3 billion letters, representing the genetic code that makes each person unique.

About 500 pages of the genome are unique to each individual, while the rest are identical to others.

Genetic testing can reveal information about a person's health, such as predispositions to diseases or reactions to medications.

Angelina Jolie's public disclosure of her BRCA1 genetic alteration and subsequent surgeries highlighted the impact of genetic information.

Genetic testing can provide life-saving information, such as identifying a higher risk for certain cancers.

The psychological impact of genetic information is significant, as it can cause anxiety and uncertainty.

Genetic counseling is crucial for helping individuals and families make informed decisions about their genetic information.

Huntington's disease is an example of a genetic condition where knowledge may not lead to curative actions.

The decision to undergo genetic testing is complex and requires consideration of personal and family narratives.

Gene therapy is an emerging field that offers hope for treating genetic conditions, such as Huntington's disease.

Genetic counseling provides the space and time for individuals to make decisions about their genetic information.

The speaker emphasizes the importance of genetic counseling in helping people navigate the complex world of genetic information.

Transcripts

[Applause]

hi everybody

blue eyes

i was always fascinated by the blue eyes

staring back at me in the mirror

partly because

i didn't know very many people with blue

eyes not my mother not my father always

the question why

and more importantly how

this question sparked a curiosity in me

which led to a passion in genetics and

led me here to genetic counselling the

technical answer by the way blue eyes

are a recessive trait as opposed to

dominant so my parents may have been

carriers hidden for generations until

chance brought them together in me like

a game of dice but

the story would be equally interesting

if it were the postman right mom

but what if it wasn't blue eyes that was

hidden what if it was something more

sinister that is what i do as a genetic

counselor i aim to

guide and navigate families through the

odyssey that is discovery of a genetic

trait within a family and it has

different implications for different

people because

after all would you want to know that

information about yourself

okay let's take a step back talk a bit

about genetics so every cell in our body

contains vital information in the form

of dna this collection of dna is known

as our genome

if you think about the genome as an

instruction manual it tells our body how

to function on a day-to-day basis it

determines things like eye color hair

color how our heart pumps blood how our

muscles contract if you open this manual

you'll find a lot of chapters about 25

000 chapters to be precise and every

chapter is a gene we've got two copies

of every gene one we inherit from the

egg and one from the sperm

back in 2003 after a decade of hard work

by scientists in laboratories the size

of warehouses and billions of dollars

the first human genome was sequenced

what this means is that our dna was

deciphered letter by letter

you can see in houston london a towering

bookcase which is our

genome it's 109 large white books all

about a thousand pages long and within

those books three billion tiny tightly

packed letters

that is our instruction manual that is

our invisible signature and of all those

pages

about 500 of them are unique to

yourselves 0.1

the rest

identical to everybody else but we know

how important those 500 pages are all

you need to do really is look around the

room

this data in tiny tightly packed letters

is really powerful

but it doesn't really mean anything it

really needs to be interpreted correctly

and that's where the science comes in

our dna can now be compared to that very

first human genome and many others that

have come after it to identify changes

that may signify important stuff for us

so something like the normal variation

like our eye color something like

adverse reactions to medicine or diet

a predisposition to high cholesterol or

cancer or a trigger to a genetic

condition

all this is so important you can find

everything out from your genome you can

find out how much eox you produce on a

daily basis something so trivial yet

also something as devastating as a

childhood genetic condition

so although you could if you wanted to

order a genome sequence for a family

member or a loved one you'd understand

why it's not on my christmas wish list

this year

in 2013 angelina jolie announced to the

world that she was having risk reducing

mastectomy

she was surgically removing her breasts

due to a genetic alteration identified

in her family

in 2015 she then talked about removing

her ovaries and fallopian tubes

due to the exact same genetic alteration

this made her up to 90 percent more

likely to develop breast cancer than

than people in the general population

and about 20 to 30 percent more likely

to develop ovarian cancer

this gene is called brca1 her mother had

brca1 a genetic change in that gene and

she died of ovarian cancer jolie was

tested for this and famously made the

decisions that she made

she famously said she now can rest

knowing that her children will never

have to say my mother died of ovarian

cancer

most people can understand the

motivation for wanting to know that

information people are motivated by

change when somebody with cancer is

diagnosed and identified to have a

genetic condition their family members

can get testing to assess whether they

are at risk in the uk this means access

to extra screening life-saving

life-saving surgery and medication

for couples who have seen loved ones

suffer because of debilitating genetic

conditions in the family they can be

armed with the recurrence risks and

statistics

and plan their family with the right

information

with this science comes psychology

you can't you can't just look at it from

one side of things

knowledge is power is a lot of

phrases that i hear in clinic people

want to know this information because it

can help them make life-changing choices

but for other people the answers that

the genetic information provides comes

with more as yet unanswerable questions

for some people genetic information is

dripping with anxiety uncertainty and

the responsibility to share that

information

blame and guilt

massive psychological triggers to

disinformation how to share that with

your relatives what it means to them and

the choices that they will make of

course we can't choose what of those 500

pages we pass on to our children but but

that in itself doesn't change the

psychology

and that's why it's important as a

genetic counselor to use the experience

of those families who have come before

to give couples and families the space

to make a decision that's right for them

at that time because after all today is

tomorrow's hindsight

genetic counseling has been happening

for many years way before genetic

testing was as common as it is now

in 1987 a study was carried out by

people affected with huntington's

disease

huntington's disease is a debilitating

devastating condition that affects the

mind the body and the person's

personality it has an onset of about 40

years of age and after a decade a person

is almost completely deteriorated

you can understand why it was important

to try and understand if a gene was

discovered if a genetic test was made

available would family members and

people affected with the condition want

to do that test

in the study 96 of people said yes the

test should be available

nowadays in clinic we see less than 40

percent of those family members when it

became very real very tangible people

weren't quite so sure

it's one thing if you can find out

something about a predisposition to

cancer where you can have access to

life-changing surgery or medication but

what if you find out something that

there's nothing you can do about it

something incurable something fatal

and this is the case with huntington's

disease at the moment

however i always think about this 18

year old chap who came to me for testing

for huntington's disease his mother had

huntington's disease so he was about 50

percent

um

likely to inherit huntington's disease

the reason he wanted to know at such a

young age was for him obvious he was

about to undertake a course in

university his dream was to be an

electrical engineer he's lived

experience with his mother showed him

that if he did inherit huntington's

disease he would never become an

electrical engineer and so he would opt

to choose something different at

university or better yet travel the

world

and this is why it's so important for a

person to go through a genetic

counseling space to really discuss

whether that's information they want to

reveal about themselves because genetic

information is something that you cannot

take back it's a new level of medical

information and at the moment we can't

alter that gene or switch off that gene

but

coming soon is gene therapy and actually

with huntington's disease we now see

more clients more patients coming to us

for testing because there's a new new

drug on the horizon that

means that the symptoms of huntington's

disease will be less and the onset will

be much later and that's the beauty

about genetics it's a constantly

changing field and the research really

provides hope we're learning more and

more every day

as a family

a decision about finding out about

genetics in your family is multifaceted

knowing about genetic risk or genetic

information means that families need to

have time to think about their own base

beliefs their narrative and their

family's narrative

as genetic counselors we give people

that space that time

and we've obviously been skilled to

adapt the information for their

knowledge

and this is so important because things

change and we want people

in the future to say

looking back at the time i made the

right decision with the guidance of a

genetic counselor

yesterday was genetic counselor

awareness day and today i hope i've

sparked some of your curiosities

to want to ask questions and to really

think about what you really want to know

this information

thank you very much

you