Transcript: June Carroll | Oct 29, 2003

(music plays)

Against a blurry background of blue and pink pills, a video reel displays pictures of medical gear such as a needle, a scan of a human body and heart rate monitors.

The title of the show slides in: “Mini-Med School.”

Then, June Carroll stands on a stage in a university auditorium giving a lecture. She’s in her mid-forties with short brown hair and bangs. She’s wearing a brown blazer over a brown patterned shirt and an ID card on her chest.

Behind her, a computer screen is projected on a tall white wall.

June says SO WHEN YOU
HEARD I WAS GONNA BE TALKING
ABOUT GENETICS, WHAT DID IT MEAN
TO YOU?

A caption appears on screen. It reads “June Carroll. University of Toronto.”

She continues WHAT DID YOU THINK ABOUT?
DID YOU THINK ABOUT INHERITED
FEATURES FROM YOUR ANCESTORS?

The caption changes to “Modern Genetics.”

She continues DID YOU THINK ABOUT, OH YEAH, I
MEAN, I ACT THE WAY I DO BECAUSE
THAT'S THE WAY THE MEN IN MY
GENERATION -- OR THE MEN IN MY
FAMILY HAVE FOR GENERATIONS?
DID YOU THINK ABOUT THE NOSE
THAT YOU HAD INHERITED FROM YOUR
MOTHER?
WHAT DID YOU THINK ABOUT WHEN
YOU THOUGHT ABOUT THAT WORD,
“GENETICS”?
DID YOU THINK ABOUT GENETICALLY-
MODIFIABLE FOOD?
THAT'S CERTAINLY A TOPIC THAT'S
OUT THERE A LOT RIGHT NOW.
DID YOU THINK ABOUT THE FORENSIC
ASPECT OF GENETICS, ABOUT DNA
FINGERPRINTING?
THAT CERTAINLY HAPPENS TO BE ONE
OF MY, MY INTERESTS AS A HOBBY
AND I ACTUALLY, UH, LOVE THE
SHOW CALLED
CSI,
WHICH IS
ON RIGHT NOW AS WE'RE TALKING.

The audience laughs.

June says UM, WHICH TALKS
A -- IT DOES A LOT ABOUT CRIME,
UH, SOLVING THROUGH DENE --
THROUGH GENETICS AND DNA
FINGERPRINTING.
OR DID YOU THINK ABOUT MEDICAL
ADVANCES, ABOUT SOME OF THE NEW
GENETIC TESTS FOR SUSCEPTIBILITY
TO CANCER, TO ALZHEIMER DISEASE,
TO A NUMBER OF, OF COMMON
DISORDERS THAT ARE BEING TALKED
ABOUT NOW?

She runs a PowerPoint presentation.

She continues IT'S INTERESTING THAT OF THE 10
LEADING CAUSES OF DEATH, NINE
SEEM TO BE CAUSALLY RELATED TO
GENETIC FACTORS, ALL OF THESE
COMMON DISEASES THAT YOU HERE
ABOUT ALL THE TIME.
AND THE ONE THAT WE THINK ISN'T,
LET'S SAY INJURY, YOU THINK HOW
COULD THAT BE GENETIC, BUT
YOU'VE PROBABLY HEARD THAT
THERE'S SOME POSSIBILITY OF A
GENE FOR RECKLESSNESS, RECKLESS
BEHAVIOUR, WHICH IS PROBABLY A
CONTRIBUTING FACTOR TO A LOT OF
THE INJURY THAT HAPPENS.
SO YOU MAY SAY, WELL, IS
EVERYTHING GENETIC?
WELL, I WOULD SAY NO, BECAUSE
UNFORTUNATELY ABOUT, UH, 50 percent OR
MORE OF THE PREMATURE DEATH AND
DISABILITY IS CAUSED BY THINGS
THAT WE DO TO OURSELVES OR TO
OTHERS, LIKE SMOKING, DIET AND
EXERCISE, ALCOHOL, DRUGS.
SO WHAT I'M PLANNING TO TALK
ABOUT TONIGHT IS A LITTLE ON THE
HISTORY OF GENETICS JUST TO,
PARTLY 'CAUSE OF THE DAY THAT IT
IS, A PRIMER ON GENETICS AND
SOME OF THE WORDS THAT WE USE IN
THIS AREA, TELL YOU A LITTLE
ABOUT THE GENOME PROJECT, WHICH
I THINK IS GOING TO CHANGE THE
FACE OF MEDICINE OVER THE NEXT
10 TO 20 YEARS.
WE'LL DO SOME EXAMPLES OF
GENETICS, UH, PROBLEMS AND
DISORDERS AND PERHAPS, UH, MIKE
AND I CAN HAVE MORE OF A
DISCUSSION WITH YOU ABOUT THAT
AFTERWARDS.
SOME OF THE RISKS AND BENEFITS
OF GENETIC TESTING AND MAYBE
SOME OF MY FUTURE PREDICTIONS
ABOUT HOW GENETICS MAY PLAY A
ROLE IN YOUR LIFE.
SO THE HUMAN GENOME PROJECT,
THIS IS, UH, ONE OF THE LARGEST
INTERNATIONAL BIOMEDICAL
RESEARCH PROJECTS EVER, IT'S
BEEN GOING ON FOR 15 YEARS AND
ITS GOAL IS TO, UH, CREATE A
HIGH-RESOLUTION MAP OF THESE
APPROXIMATELY 30,000 GENES ON
THE 46 CHROMOSOMES.
AS OF JANUARY 5th THIS YEAR, THE
SEQUENCING WAS ALMOST 96 percent
FINISHED.
UM, SO THIS IS REALLY THE
ULTIMATE MAP, THE SEQUENCE OF
GENES, UH, IN, IN OUR GENOME.
BUT BY ITSELF, IT'S REALLY LIKE
JUST GIVING YOU, UM, A TELEPHONE
BOOK WITHOUT THE NAMES, SO YOU
WOULD REALLY GET ALL THE
NUMBERS, BUT NOT THE NAMES, SO
YOU WOULD HAVE A WHOLE LOT OF
SEQUENCES, BUT NOT REALLY KNOW
WHAT THEY DO.
SO THE REAL IMPACT IS GONNA COME
WHEN WE ACTUALLY FIGURE OUT HOW
TO MAKE THE WORDS AND SENTENCES,
HOW TO GET THE MEANING OUT OF
THESE SEQUENCES OF GENES.
WE KNOW NOW, UH, THAT THERE'S
ABOUT 1,000 GENES THAT ARE
RESPONSIBLE FOR SUSCEPTIBILITY
TO DISEASE, BUT WE'VE GOT 30,000
GENES, SO THERE'S A LOT OF WORK
TO GO.
SO HERE'S ANOTHER QUIZ FOR YOU
ABOUT SIMILARITY.
HOW ABOUT MICE -- A MOUSE AND A
HUMAN, HOW SIMILAR ARE WE AT THE
MESSENGER RNA LEVEL?
NOW YOU'RE PROBABLY ALREADY
GETTING THE GIST OF THIS, SO
IT'S NOT SO MUCH ANYMORE TO
GUESS AT THESE NUMBERS, BUT HERE
WE'RE ABOUT 85 percent SIMILAR AT THE
MESSENGER RNA LEVEL.
SO IT'S VERY INTERESTING ABOUT
THE MOUSE AND THE HUMAN, SOME OF
YOU MAY HAVE HEARD ABOUT THE
WHOLE HARVARD MOUSE CASE, THE
ISSUE OF WHETHER A MOUSE, UH,
THAT CAN BE USED FOR MEDICAL
EXPERIMENTS SHOULD BE PATENTED.
UM, IT'S INTERESTING THAT BOTH
SPECIES HAVE ABOUT 30,000 GENES
AND ONLY 300 ARE UNIQUE TO THE
HUMAN COMPARED TO THE MOUSE.
SO THE MOUSE IS ACTUALLY AN
EXCELLENT MODEL FOR HUMAN
DISEASE.
THIS DOESN'T HAVE TOO MUCH TO DO
WITH MY TALK, BUT IT'S KIND OF
AN INTERESTING PERSPECTIVE ON,
ON GENETICS.
SO IF YOU'RE INTERESTED IN THIS
KIND OF TRIVIA ABOUT GENETICS,
IF YOU GO ON TO THE, UM, NATURE
WEB SITE, IT'S EASILY
ACCESSIBLE, IF YOU JUST PUT IN,
UM, “NATURE” ON YOUR SEARCH, YOU
WILL ACTUALLY BE ABLE TO FIND
THIS ARTICLE ON THE HUMAN GENOME
AND IT ACTUALLY TRACKS THE
PROGRESS OF, UH, THE CODING AND
SEQUENCING.

Slides display what she mentions.

She continues SO IF YOU GO ON, I MEAN, I GAVE
A SIMILAR TALK IN NOVEMBER TO
THE FIRST MINI-MED SCHOOL AND I
COULD -- WAS ABLE TO SEE THE
PROGRESS OF GENETIC TRACKING BY
GOING BACK ON IT FOR THIS TALK.
SO THE QUESTION IS, WHAT WILL
THE HUMAN GENOME PROJECT, WHAT
IMPACT WILL IT HAVE ON HEALTH,
ON HEALTH PROMOTION AND DISEASE
PREVENTION AND WHAT IMPACT WILL
IT HAVE ON OUR SOCIETY?
SOME PEOPLE HAVE VERY HIGH HOPES
FOR GENETICS.
SO WHAT IMPACT IS MAPPING THE
GENOME GONNA HAVE ON HEALTH AND
ILLNESS?
WELL, WE ALREADY ARE USING
GENETICS, UH, TO DIAGNOSE AND
DETECT MANY DISORDERS.
IN PRENATAL CARE, WE'RE USING
GENETIC TESTING FOR DISORDERS
SUCH AS DOWN SYNDROME, MUSCULAR
DYSTROPHY, NEURAL TUBE DEFECTS.
UH, NEWBORNS AND CHILDREN CAN BE
SCREENED FOR CYSTIC FIBROSIS.
AND THERE IS NOW SUSCEPTIBILITY
TESTING FOR MANY ADULT ONSET
DISORDERS, PARTICULARLY SOME OF
THE CANCERS, SUCH AS BREAST-
OVARIAN CANCER, COLORECTAL AND
YOU HEARD ABOUT MELANOMA.
WE'RE GONNA TALK ABOUT THESE IN
A FEW MINUTES.
I WANNA JUST TELL YOU A BIT
ABOUT HEREDITARY CANCER FIRST,
THOUGH.
FIRST OF ALL IT'S IMPORTANT FOR
YOU TO KNOW THAT ALL CANCERS ARE
GENETIC, AND WHAT I MEAN BY THAT
IS THAT CANCER IS THE RESULT OF
A CASCADE OF DNA MUTATIONS IN
SEVERAL GENES THAT ALLOW FOR THE
CELLS TO JUST GROW IN AN
UNCONTROLLED FASHION.
SO THAT'S REALLY WHAT CANCER IS,
CELLS GROWING IN A, IN A VERY
UNCONTROLLED FASHION, PROBABLY
RELATED TO SOME GENETIC
MUTATIONS.
BUT MOST OF THESE CANCERS ARE
WHAT WE CALL SPORADIC, SO WE
DON'T KNOW WHAT CAUSED THEM, WE
DON'T KNOW WHY IT HAPPENED AND
IT'S -- THE MUTATION HAS
OCCURRED IN WHAT WE CALL THE
SOMATIC CELLS IN YOUR BODY, SO
THOSE MUTATIONS ARE NOT PASSED
ON TO YOUR CHILDREN.
YOU'VE DEVELOPED THOSE MUTATIONS
PROBABLY AS AN ADULT OR AS AN,
AS A CHILD, UH, AND YOU CAN'T
PASS THEM ON.
THE CANCERS THAT I'M TALKING
ABOUT TODAY ARE WHAT WE CALL
HEREDITARY AND THAT MEANS THAT
THERE'S A GENE MUTATION THAT'S
IN YOUR GERMLINE CELLS, OR THE
CELLS REALLY BA -- THE BASIC,
ORIGINAL CELLS THAT ARE PASSED
ON, UH, AS PART OF YOUR
INHERITANCE THROUGH THE EGG OR
THROUGH THE SPERM.
SO THOSE MUTATIONS CAN BE PASSED
ON THROUGH FAMILIES.
SO THERE'S QUITE A DIFFERENCE
HERE IN WHAT WE'RE TALKING
ABOUT.
SO A MUTATION, WHEN I'M TALKING
ABOUT THAT, I'M TALKING ABOUT A,
A REALLY TERRIBLE ALTERATION IN
THE STRUCTURE OR FUNCTION OF THE
PROTEIN THAT ENDS UP CAUSING
DISEASE.
SO YOU CAN SEE THERE'S BEEN SOME
KIND OF TERRIBLE MUTATION UP
HERE IN THE DNA THAT RESULTS IN
AN ERROR IN THE MESSAGE,
MESSENGER RNA, SO THAT THE
PROTEIN IS ALTERED.

She uses a laser pointer to point at a slide.

She continues AND IN MOST CASES, IT MEANS THAT
THE PROTEIN IS TRUNCATED OR
SHORTENED, SO THAT IT'S UNABLE
TO CARRY OUT ITS PROPER
FUNCTION.
SO HOW WOULD YOU KNOW IF YOU
WERE PART OF ONE OF THESE
HEREDITARY CANCER FAMILIES THAT
I'M TALKING ABOUT?
WELL, YOU WOULD PROBABLY HAVE
SEVERAL RELATIVES ON THE SAME
SIDE OF THE FAMILY WHO HAVE
CANCER.
MORE THAN ONE GENERATION WOULD
BE AFFECTED WITH THE SAME KIND
OF CANCER OR VERY SIMILAR
CANCERS.
AND USUALLY THE CANCER WOULD
HAVE BEEN DIAGNOSED AT A YOUNG
AGE, SO IN PEOPLE WHO ARE
YOUNGER THAN 50 AND PARTICULAR
IF THERE ARE CANCERS IN THE
FAMILY UNDER THE AGE OF 35.
THAT WOULD RAISE SORT OF A RED
FLAG THAT YOU MIGHT BE FROM A
HEREDITARY CANCER FAMILY.
SO TAKE A LOOK AT MARY, FOR
EXAMPLE HERE.
HERE'S MARY WHO IS 40.
SO SHE HAS, UH, A MOTHER WHO
DIED OF OVARIAN CANCER AT THE
AGE OF 48.

A slide under the title “Mary’s family tree-highlighting family members with breast of ovarian cancer” appears on screen.

She continues SHE HAS A SISTER WHO WAS
DIAGNOSED WITH OVARIAN CANCER AT
THE AGE OF 40 AND SHE HAS
ANOTHER SISTER WITH BREAST
CANCER DIAGNOSED AT THE AGE OF
38.
AND SHE HAS A NIECE WHO WAS
DIAGNOSED WITH BREAST CANCER AT
THE AGE OF 30.
THESE ARE THE KIND OF FAMILIES
THAT WOULD RAISE A FLAG FOR A
FAMILY DOCTOR OR A CANCER
SPECIALIST THAT THIS MIGHT BE AN
INHERITED FORM OF BREAST OR
OVARIAN CANCER.
AND YOU CAN SEE WHY, IT'S
MULTIPLE GENERATIONS, PEOPLE AT
A YOUNG AGE GETTING BREAST OR
OVARIAN CANCER.
SO WHAT ARE THE ISSUES FOR MARY?
WELL, I'M SURE SHE HAS A LOT OF
QUESTIONS.
HAS SHE INHERITED THIS DISEASE?
IS SHE LIKELY TO GET BREAST OR
OVARIAN CANCER?
WHAT ABOUT HER DAUGHTER AND HER
SONS?
WHEN SHOULD THEY -- WHEN SHOULD
HER DAUGHTERS START HAVING
MAMMOGRAMS, WHAT SHOULD SHE DO
ABOUT THIS?
WHAT ADVICE SHOULD SHE GIVE HER
BROTHER WHO MAY ALSO HAVE
INHERITED THIS, HAS HE PASSED IT
ON TO HIS DAUGHTER?
THESE ARE THE KIND OF QUESTIONS
THAT ARE RAISED IN THIS KIND OF
SITUATION.
SO FIRST OF ALL, WHAT'S THE
AVERAGE WOMAN'S CHANCE OF
GETTING BREAST CANCER IN HER
LIFETIME?
THIS IS THE NUMBER MANY OF YOU
WILL KNOW, WHICH IS THE ONE IN
NINE.
SO LET'S JUST TALK ABOUT BREAST
CANCER FOR A MINUTE.
80 percent OF WOMEN HAVE AN AVERAGE
RISK OF BREAST CANCER, WHERE THE
CAUSE IS UNKNOWN AND AGE IS
STILL THE BIGGEST FACTOR OR
BIGGEST RISK FACTOR FOR GETTING
BREAST CANCER, SO THE OLDER A
WOMAN GETS, THE HIGHER RISK SHE
IS OF GETTING BREAST CANCER.
20 percent OF WOMAN HAVE A FAMILY
HISTORY OF BREAST OR OVARIAN
CANCER AND IF YOU HAVE ONE FIRST
DEGREE RELATIVE AND A FIRST
DEGREE RELATIVE MEANS, UH, A
PARENT, A SIBLING OR A CHILD WHO
HAS BREAST OR OVARIAN CANCER,
UH, SORRY, IF YOU HAVE ONE FIRST
DEGREE RELATIVE UNDER 50 WITH
BREAST CANCER, YOU HAVE TWO
TIMES THE RISK OF GETTING BREAST
CANCER.
BUT HERE'S THE PEOPLE WE'RE
TALKING ABOUT IN THIS TALK ABOUT
THE HEREDITARY CANCER SYNDROMES.
ABOUT 5 percent OF WOMEN WITH A FAMILY
HISTORY OF, UH, WILL HAVE
HEREDITARY BREAST CANCER, WHERE
THEY'VE INHERITED A GENE
MUTATION THAT PUTS THEM AT
INCREASED RISK OF GETTING BREAST
OR OVARIAN CANCER.
WE'VE NOW DISCOVERED MORE THAN
400 MUTATIONS IN THE TWO GENES
THAT SEEM TO BE RESPONSIBLE FOR
THIS HEREDITARY BREAST CANCER.
THESE GENES, WHEN THEY'RE
FUNCTIONING PROPERLY, UH, STOP
THE GROWTH OF TUMOURS, THEY
REPAIR DAMAGED DNA.
SO WHEN THEY'RE MUTATED, THEY'RE
UNABLE TO REPAIR THIS DAMAGED
DNA AND TUMOURS CAN GROW.
SO WHO HAS THESE MUTATIONS?
THE FREQUENCY OF THIS MUTATION
IS ABOUT ONE IN 1,000 IN THE
GENERAL POPULATION AND ABOUT ONE
IN 50 IN ASHKENAZI JEWS.
SO THESE ARE JEWISH PEOPLE WHO
HAVE USUALLY ORIGINATED IN
NORTHERN EUROPE.
EACH CHILD OF SOMEONE WHO
CARRIES THIS MUTATION HAS A 50 percent
CHANCE OF HAVING IT THEMSELVES.
SO WHAT DOES IT MEAN IF YOU
CARRY THE GENE FOR HEREDITARY
BREAST CANCER?
WELL, THERE'S AN INCREASED RISK
OF GETTING BREAST CANCER, UP TO
ABOUT 85 percent RISK OF GETTING BREAST
CANCER BY THE AGE OF 70,
COMPARED TO 11 percent RISK IN THE
GENERAL POPULATION.

Slides continue to run.

She continues SO YOU CAN SEE WHAT A HUGE
DIFFERENCE IT MAKES HAVING THIS
MUTATION.
THEY HAVE AN INCREASED RISK OF
OVARIAN CANCER, UP TO ABOUT 40 percent
CHANCE OF GETTING OVARIAN CANCER
BY THE AGE OF 70, COMPARED TO
LESS THAN 1 percent OF THE GENERAL
POPULATION.
AND MEN ARE NOT IMMUNE TO THIS,
IF THEY'VE INHERITED THE
MUTATION, THEY HAVE UP TO 15 percent
RISK OF PROSTATE CANCER,
COMPARED TO 3 percent IN THE GENERAL
POPULATION.
A COMMON MYTH IN GENETICS IS
PEOPLE THINK THAT WOMEN INHERIT
FROM THEIR MOTHERS AND MEN
INHERIT FROM THEIR FATHERS, OF
COURSE, NOT TRUE, 'CAUSE YOU
INHERIT EQUALLY.
SO THAT A MAN HAS A 50 percent CHANCE
OF INHERITING THE HEREDITARY
BREAST OR OVARIAN CANCER GENE
FROM HIS MOTHER OR HIS FATHER
AND CAN PASS THAT ON TO HIS
CHILDREN.
ANOTHER MYTH, JUST WHILE WE'RE
ON MYTHS, IS THAT YOU'VE
INHERITED THE SAME GENES AS THE
PARENT YOU LOOK THE MOST LIKE.
WELL, YOU'VE INHERITED SOME OF
THEM, BUT YOU CERTAINLY HAVEN'T
INHERITED ALL OF THEM, SO
OBVIOUSLY DOESN'T MEAN THEY'RE
GONNA BEHAVE THE SAME WAY
MEDICALLY.
SO WHAT CAN TESTING, GENETIC
TESTING FOR SUSCEPTIBILITY TO
CANCER TELL YOU?
WELL, IF YOU HAD A POSITIVE
GENETIC TEST FOR ONE OF THESE
INHERITED CANCER SYNDROMES, IT
OBVIOUSLY TELLS YOU YOU'RE AT
INCREASED RISK FOR THAT SPECIFIC
CANCER.
THE PROBLEM, THOUGH, WITH
GENETIC TESTING TODAY IS FIRST
OF ALL, IT DOESN'T TELL YOU YOU
WOULD GET IT FOR SURE, SO THE
RISK OF GETTING BREAST CANCER IF
YOU CARRY THIS GENE MUTATION
RANGES ANYWHERE BETWEEN ABOUT 45
AND 85 percent.
IT ALSO DOESN'T TELL YOU THAT
YOU'LL GET IT FOR SURE, SORRY,
IT ALSO DOESN'T TELL YOU WHEN
YOU'LL GET IT, WHAT AGE, ARE YOU
GONNA GET IT AT 50 OR ARE YOU
GONNA GET IT AT 90 AND IT
DOESN'T TELL YOU HOW BAD THE
CANCER WILL BE.
SO YOU CAN SEE IT'S PRETTY
INEXACT AND CAN CAUSE A LOT OF
ANXIETY, 'CAUSE WE JUST DON'T
HAVE THE ANSWERS.
A NEGATIVE GENETIC TEST, IF YOUR
FAMILY HAS A KNOWN GENETIC
MUTATION, TELLS YOU THAT YOU
HAVE THE SAME RISK OF GETTING
THAT TYPE OF CANCER AS THE REST
OF THE POPULATION.
NOW THIS IS PRETTY COMPLICATED,
SO WE'RE GONNA GO THROUGH A
LITTLE MORE ABOUT THIS IN A
MINUTE.
JUST AS ANOTHER EXAMPLE,
COLORECTAL CANCER IS ANOTHER
EXAMPLE OF AN INHERITED CANCER
KIND OF SYNDROME.
AND YOU'LL SEE THE PATTERN IS
VERY SIMILAR TO HEREDITARY
BREAST CANCER.

A slide under the title “Colorectal Cancer (CRC)” appears.

She continues UH, THE CHANCE OF GETTING
COLORECTAL CANCER IN YOUR
LIFETIME NORMALLY IS ABOUT 6 percent
AND ABOUT 75 percent OF PEOPLE ARE AT
AVERAGE RISK OF GETTING COLON
CANCER.
20 percent OF PEOPLE HAVE COLON CANCER
IN A FIRST DEGREE RELATIVE.
IF YOU HAVE ONE FIRST DEGREE
RELATIVE WITH COLON CANCER,
YOU'RE AT TWICE THE RISK, BUT IF
YOU HAVE ONE FIRST DEGREE
RELATIVE COLON CANCER UNDER 45,
YOU HAVE FIVE TIMES THE RISK.
SO AGAIN, IF IT'S AT A YOUNGER
AGE, MAKES A DIFFERENCE.
5 percent SEEM TO HAVE THIS HEREDITARY
COLORECTAL CANCER SYNDROME, AND
THAT MEANS THEY HAVE -- THEY
CARRY A GENE THAT PREDISPOSES OR
MAKES THEM MORE SUSCEPTIBLE TO
GETTING, UH, COLORECTAL CANCER.
AND THEY THEN HAVE AN 80 percent OF
GETTING COLON CANCER.
SO WHAT SHOULD YOU DO IF THIS --
ANY OF THESE STORIES SOUND LIKE
YOUR FAMILY, UM, YOU SHOULD
CERTAINLY TALK TO YOUR FAMILY
PHYSICIAN ABOUT YOUR FAMILY
HISTORY.
AND IF YOU'RE AT INCREASED RISK,
IF YOU MEET SOME OF THE CRITERIA
THAT ARE LAID OUT FOR THESE HIGH
RISK FAMILIES, YOU MIGHT
CONSIDER BEING REFERRED TO A
GENETICS CENTRE TO SEE A
SPECIALIST, A GENETICIST OR A
CANCER SPECIALIST WHO, WHO
SPECIALISES IN THIS AREA.
SO GENETIC TESTING IS AVAILABLE,
IT'S CERTAINLY AVAILABLE AT MANY
CENTRES IN TORONTO AND AT A
NUMBER OF, UH, REGIONAL GENETIC
CENTRES.
GENETIC TESTING ITSELF IS VERY
SIMPLE FOR YOU IN THAT IT'S ONLY
A BLOOD TEST, BUT IT'S NOT SO
SIMPLE IN ITS IMPLICATIONS.
IT'S COVERED BY OHIP IF THE, THE
CRITERIA ARE MET FOR TESTING.
SO WHAT -- THE BASIC, UH,
PROCESS UNDER WHICH YOU HAVE TO
GO IS THAT IF YOU WERE
INTERESTED IHAVING THIS
TESTING AND YOU THOUGHT YOU HAD
A FAMILY HISTORY WITH THIS KIND
OF RISK, THE PERSON, A PERSON IN
YOUR FAMILY NEEDS TO BE TESTED
FIRST WHO ACTUALLY HAS CANCER.
'CAUSE LOOKING FOR THE GENETIC
MUTATION IS LIKE LOOKING FOR A
NEEDLE IN A HAYSTACK AND IF YOU
KNOW THE NEEDLE IS LIKELY TO BE
THERE, YOU'RE MORE LIKELY TO GO
LOOKING FOR THAT PERSON FIRST.
SO THAT FOR INSTANCE, WITH MARY
IN MY STORY, IF ONE OF HER
RELATIVES WITH CANCER WAS
WILLING TO HAVE GENETIC TESTING,
SHE WOULD BE THE FIRST PERSON
TESTED AND IF A MUTATION WAS
FOUND, THEN TESTING WOULD BE
OFFERED TO THE REST OF HER
FAMILY MEMBERS.
IT'S ONLY IN EXCEPTIONAL
CIRCUMSTANCES THAT PEOPLE CAN
HAVE GENETIC TESTS WHERE THERE
ARE NO, UH, FAMILY MEMBERS
LIVING WITH CANCER WHO ARE
WILLING TO BE TESTED.
AND WE WON'T GO INTO THOSE IN
DETAIL, BUT, UH, PARTICULARLY IN
THE SITUATION OF ASHKENAZI JEWS,
WHERE THERE MAY NOT BE FAMILY
MEMBERS LIVING, UM, THERE ARE
PARTICULAR GENE MUTATIONS THAT
CAN BE TESTED FOR.
SO WHAT ARE THE RISKS OF GENETIC
TESTING, I MEAN, WHY WOULDN'T
ALL OF YOU WANNA HAVE GENETIC
TESTING?
WELL, I CERTAINLY WOULDN'T
ADVISE THAT, FIRST OF ALL.
UM, AND WHAT YOU'RE GONNA SEE IN
MY EXAMPLES, FIRST I'VE
PRESENTED CANCERS, I'M GONNA
PRESENT A COUPLE OF OTHER
EXAMPLES.
THESE CANCERS, THESE TWO CANCERS
ARE THE ONLY -- ARE REALLY THE
ONLY CANCERS THAT ARE NOW BEING
TESTED FOR, I GUESS OTHER THAN,
UM, MELANOMA.
UM, SO WE DON'T HAVE TESTS FOR
EVERY KIND OF CANCER, THAT'S THE
FIRST THING.
UM, IF YOU HAD A NEGATIVE TEST,
YOU MIGHT THINK THAT YOU'D JUST
BE THRILLED TO FIND THAT YOU
DIDN'T CARRY THE MUTATION, BUT
WHAT WE FOUND IS THAT OFTEN IN
THESE FAMILIES, PEOPLE FEEL VERY
GUILTY, THEY SUFFER FROM WHAT WE
CALL “SURVIVOR GUILT,” WHERE
MANY MEMBERS IN THEIR FAMILY
HAVE DIED OF A PARTICULAR KIND
OF CANCER AND THEY WONDER WHY
THEY WERE SPARED AND PERHAPS
THEIR SIBLINGS OR PARENTS ARE
NOT.
UM, THERE'S THE RISK OF
COMPLACENCY, PEOPLE THINK IF
THEY DON'T HAVE THE GENE
MUTATION, THEY DON'T HAVE TO DO
THE REGULAR SCREENING OR
MAMMOGRAMS OR, OR EXAMINATIONS.
MANY OF THESE GENETIC TEST
RESULTS ARE UNCERTAIN.
JUST BECAUSE A MUTATION ISN'T
FOUND, LET'S SAY IN MARY'S
FAMILY, NO MUTATION IS FOUND, IT
MAY MEAN THAT WE JUST HAVEN'T
FOUND THAT MUTATION YET, BECAUSE
WE'VE ONLY FOUND ABOUT 400 AT
THIS POINT.
POSITIVE TEST RESULTS, UH, OFTEN
RESULT IN ANXIETY, DEPRESSION,
GUILT AT PASSING ON THE GENETIC
MUTATION TO YOUR CHILDREN, THERE
CAN OFTEN BE MAJOR FAMILY
ISSUES, UH, IT MAY BE THAT, UH,
PERHAPS A, A FELLOW IN A FAMILY
FINDS OUT THAT HE'S CARRYING THE
GENE FOR HEREDITARY COLORECTAL
CANCER AND THEN HE HAS THE
RESPONSIBILITY OF NOTIFYING
OTHER MEMBERS OF HIS FAMILY.
THEY MAY BE FAMILY MEMBERS THAT
YOU'RE NOT CLOSE TO ANYMORE, YOU
MAY HAVE HAD MAJOR ARGUMENTS
WITH THEM AND YOU DON'T TALK
ANYMORE.
A SIBLING MAY NOT WANNA KNOW
THEIR TEST RESULTS, I MEAN, ALL
KINDS OF THINGS CAN START TO
HAPPEN IN FAMILIES WHEN YOU TALK
ABOUT THESE THINGS.
THESE TESTS ARE DIFFERENT THAN
JUST HAVING YOUR HAEMOGLOBIN
MEASURED OR YOUR BLOOD SUGAR,
BECAUSE THEY HAVE RAMIFICATIONS
THROUGH YOUR WHOLE FAMILY.
IF YOU HAVE THE TEST AND FIND
OUT YOU HAVE THE MUTATION,
EVERYONE ELSE IN YOUR FAMILY MAY
POSSIBLY BE CARRYING THAT
MUTATION AND THEY MAY NOT HAVE
WANTED TO KNOW, THANK YOU VERY
MUCH, BUT YOU'VE NOW TOLD THEM.
UH, THERE MAY BE ISSUES ABOUT
INSURANCE, UM, FORTUNATELY IN
THIS COUNTRY, IT'S NOT GONNA
AFFECT YOUR HEALTH INSURANCE,
BUT IN THE UNITED STATES, THIS
IS A HUGE ISSUE AND A NUMBER OF
PEOPLE ARE NOT CHOOSING TO HAVE
TESTING, 'CAUSE THEY THINK IT
WILL AFFECT THEIR HEALTH
INSURANCE.

A slide displays the points she talks about.

She continues UM, THERE'S ALSO, OF COURSE,
ISSUES OF CONFIDENTIALITY AND,
UH, PERHAPS WE CAN TALK ABOUT
THAT LATER, BUT IF YOU THINK
ABOUT THE SITUATION WHERE I'M A
FAMILY DOCTOR FOR A SERI -- A
WHOLE EXTENDED FAMILY AND ONE
PERSON CHOOSES TO HAVE GENETIC
TESTING AND FINDS OUT THEY'RE
POSITIVE AND ASKS ME NOT TO TELL
ANYBODY ELSE.
SO WHAT DO I DO WITH THE REST OF
THE FAMILY MEMBERS WHO I NOW
KNOW COULD BE AT INCREASED RISK?
THEY'RE GONNA WONDER WHY I'M
ORDERING MAMMOGRAMS AT 30
INSTEAD OF AT 50, I MEAN, IT'S
GONNA SEEM PRETTY WEIRD, AND IF
I DON'T ORDER THEM, HOW AM I
GONNA FEEL WHEN I KNOW THEY
COULD BE AT INCREASED RISK?
SO THERE'S HUGE IMPLICATIONS
HERE THAT NO ONE'S REALLY
THOUGHT ABOUT YET OR KNOWS WHAT
TO DO.
SO YOU MIGHT HAVE GENETIC
TESTING, 'CAUSE IF IT WAS
NEGATIVE, YOU WOULD BE RELIEVED
FROM SOME ANXIETY, YOU MIGHT BE
PREVENTED FROM HAVING
UNNECESSARY SURGERIES OR
TREATMENTS AND A POSITIVE TEST
RESULT MIGHT MEAN THAT YOU COULD
BENEFIT FROM INCREASED
SURVEILLANCE OR PREVENTIVE
OPTIONS.
SO IF YOU FOUND OUT YOU HAD THE
GENE FOR HEREDITARY BREAST
CANCER, YOU WOULD PROBABLY START
MAMMOGRAPHY AT THE AGE OF 25.
YOU WOULD PROBABLY HAVE
ULTRASOUND, UH, SURVEILLANCE FOR
OVARIAN CANCER SCREENING AT 25
OR 30.
THERE IS ALMOST NO EVIDENCE AT
THE MOMENT FOR ANY OF THESE
RECOMMENDATIONS I'M GIVING YOU,
'CAUSE IT'S JUST TOO SOON.
SO THESE RECOMMENDATIONS ARE
REALLY BASED ON THE ADVICE OF
EXPERTS AND THE EXPERIENCE WE
HAVE SO FAR, BUT WE WON'T HAVE
THE RESULTS OF THESE RANDOMISED
TRIALS REALLY FOR ANOTHER FEW
YEARS.
IF YOU FOUND OUT YOU HAD THE
GENE FOR HEREDITARY COLORECTAL
CANCER, YOU'D PROBABLY START
COLONOSCOPY AT ABOUT THE AGE OF
25 OR FIVE YEARS YOUNGER THAN
THE RELATIVE WHO HAD THE
EARLIEST DIAGNOSIS.
SO YOU CAN SEE THESE ARE MUCH
EARLIER INTERVENTIONS THAN YOU
WOULD HAVE IF YOU DIDN'T HAVE
THE GENE MUTATION.
WE KNOW THAT ABOUT 10 percent OF PEOPLE
OVER 70 HAVE MEMORY LOSS AND,
UH, PROBABLY, UM, ABOUT 50 percent OF
THESE HAVE ALZHEIMER DISEASE.

A slide reads “Dementia-Alzheimer Disease. Symptoms: memory loss, poor judgment, agitation, confusion, language disturbance, withdrawal.”

She continues I'M SURE YOU'RE FAMILIAR WITH
THE SYMPTOMS FROM THE TALK YOU
HAD, UH, LAST SESSION.
AND YOU KNOW THAT THE CAUSES
INCLUDED AGEING, GENETIC
PREDISPOSITION AND PERHAPS
EXPOSURE TO SOME OF THESE
ENVIRONMENTAL AGENTS.
NOW LET'S TALK ABOUT GENETIC
TESTING FOR THIS DISORDER.
FIRST DEGREE RELATIVES, REMEMBER
THAT MEANS, UH, A PARENT, A
SIBLING OR A CHILD, OF PEOPLE
WITH ALZHEIMER'S DISEASE HAVE A
LIFETIME RISK OF 20 TO 25 percent OF
GETTING IT THEMSELVES, SO THAT'S
TWICE THE USUAL RISK.
AND THERE IS A GENETIC BASIC,
THIS APOLIPOPROTEIN E4 IS
ASSOCIATED WITH ALZHEIMER
DISEASE.
HAVING IT DOES NOT MEAN THAT
YOU'RE NECESSARILY GONNA GET
ALZHEIMER'S AND NOT HAVING IT
DOESN'T MEAN THAT YOU WON'T GET
ALZHEIMER'S DISEASE.
SO HERE'S THE REAL DILEMMA WITH
THIS KIND OF GENETIC TESTING.
SO WOULD YOU WANT TO HAVE A
GENETIC TEST THAT WOULD TELL YOU
THAT YOU HAVE THE GENE MARKER,
YOU HAVE THE GENETIC MUTATION
FOR ALZHEIMER'S DISEASE, BUT WE
CAN'T TELL YOU WHETHER YOU'RE
GOING TO GET IT OR WHEN YOU'RE
GONNA GET IT AND WE CAN'T TREAT
IT REALLY.
SO WOULD YOU WANNA KNOW?
SO FOR ME THIS IS AN EXAMPLE OF
A GENETIC TEST THAT'S NOT REALLY
READY FOR PRIME TIME AT THIS
TIME.
NOW WHEN I PRESENTED THIS IN
NOVEMBER, A NUMBER OF PEOPLE
CAME UP TO ME AFTERWARDS AND
DISAGREED WITH ME ON THIS.
SO SOME, UM, ELDERLY, UH, AN
ELDERLY GENTLEMAN IN THE
AUDIENCE SAID THAT HE WOULD
ACTUALLY WANT TO HAVE THE TEST,
BECAUSE IF HE KNEW THAT THIS WAS
LIKELY TO HAPPEN TO HIM, HE
WOULD GET HIS AFFAIRS IN ORDER
AND HE, HE WOULD JUST FEEL
BETTER, HE WOULD KNOW WHAT WAS
LIKELY TO HAPPEN TO HIM, HE
WOULD PREPARE THINGS WITH HIS
FAMILY.
WHICH I THINK IS FAIR ENOUGH,
BUT AGAIN, REMEMBER THAT THE
TEST DOESN'T JUST APPLY TO YOU,
SO IF YOU HAVE THE TEST AND YOU
FIND OUT THAT YOU'RE CARRYING
THE GENE FOR ALZHEIMER'S
DISEASE, YOUR 16-YEAR-OLD GREAT-
GRANDSON NOW KNOWS THAT HE HAS
QUITE A POSSIBILITY OF GETTING
THIS, TOO AND HOW WOULD THAT
AFFECT HIS LIFE?
WOULD HE CHANGE HIS EDUCATIONAL
PLANS, HIS, UM, YOU KNOW, HIS
LIFE DREAMS, BECAUSE YOU DON'T
KNOW IF YOU'RE GONNA GET IT OR
WHEN YOU'RE GONNA GET IT AND WE
CAN'T STOP IT.
SO I THINK WHEN YOU HEAR ABOUT
THESE NEW GENETIC TESTS THAT
YOU'RE GONNA HEAR A LOT ABOUT IN
THE NEWSPAPER AND MAGAZINES AND
ON THE RADIO AND TV, I THINK YOU
HAVE TO THINK ABOUT IT EACH
TIME, WHAT DOES IT MEAN?
HOW CERTAIN IS IT?
IS THERE ANYTHING I CAN REALLY
DO ABOUT IT THAT WOULD MAKE A
DIFFERENCE?
AND DO I REALLY WANNA KNOW, UM,
AND IF YOU CAN ANSWER ALL THOSE
AND IT MAKES SENSE, THEN GO
AHEAD AND THINK ABOUT HAVING IT,
BUT THESE ARE VERY COMPLICATED
AND VERY DIFFERENT THAN, THAN
MEDICINE HAS BEEN UNTIL NOW.
SO THIS SLIDE, I THINK, JUST
GOES THROUGH WHAT I JUST SAID.
SO THERE IS -- IN SPITE OF WHAT
I'VE JUST SAID, THERE'S THE
OCCASIONAL FAMILY HISTORY THAT'S
STRIKING, UH, IN THE SENSE OF
ALZHEIMER'S DISEASE, WHERE
PEOPLE ARE GETTING IT AT VERY
YOUNG AGES AND VERY COMMONLY AND
I THINK, IN THOSE SITUATIONS, IT
IS AT LEAST WORTH DISCUSSING IT
WITH A GENETICIST, SO YOU GET
YOUR INDIVIDUAL RISK AND DECIDE
WHETHER YOU WANT TO HAVE TESTING
OR NOT.
SO YOU CAN CERTAINLY SEE, I
HOPE, FROM WHAT I'VE TALKED
ABOUT SO FAR THAT GENOMIC
MEDICINE IS REALLY CHANGING
MEDICAL PRACTICE, 'CAUSE WHAT
WE'RE TALKING ABOUT HERE IS
CERTAINLY DIFFERENT THAN WHEN I
WENT THROUGH MED SCHOOL, WE
DIDN'T DO ANY OF THIS KIND OF
TESTING AT THAT TIME.
I PREDICT THAT REALLY, IN THE
NEXT 10 YEARS, WE'RE LIKELY TO
HAVE GENETIC TESTS THAT PREDICT
YOUR SUSCEPTIBILITY TO MAYBE A
DOZEN COMMON CONDITIONS.
BUT THE PROBLEM WITH ALL THESE
COMMON CONDITIONS, LIKE HEART
DISEASE, DIABETES, ARTHRITIS,
OSTEOPOROSIS, THESE ARE ALL
DISEASES THAT HAVE A GENETIC
COMPONENT, BUT THEY'RE WHAT WE
CALL, UM, MULTI-FACTORIAL
DISEASES.

The slide changes to “Genomic medicine is changing medical practice. By 2010: Predictive genetic tests for a dozen common conditions. People will learn individual susceptibilities. Take steps to reduce risks.”

She continues SO THEY HAVE A GENETIC
COMPONENT, BUT THEY ALSO HAVE A
HUGE INFLUENCE OF THE
ENVIRONMENT AND OTHER FACTORS
THAT CONTRIBUTE.
UM, SO I THINK THAT YOU'RE GONNA
BE OFFERED THESE KIND OF TESTS,
YOU MAY BE ABLE TO LEARN ABOUT
YOUR SUSCEPTIBILITIES, YOU MAY
BE ABLE TO TAKE RISKS TO PREVENT
THESE DISEASES, BUT IT'S
CERTAINLY NOT GONNA BE THE WHOLE
ANSWER.
THE THOUGHT IS THAT WE'LL HAVE
THESE GENE CHIPS THAT YOU'LL
HAVE IN A LITTLE PLASTIC CARD IN
YOUR WALLET THAT WILL CARRY, UM,
WHAT'S CALLED YOUR MICROARRAY,
WILL CARRY YOUR, YOUR RISKS OF
ALL THESE DISEASES, SO YOU MIGHT
CARRY A LITTLE CHIP THAT SAYS
YOU'RE AN INCREASED RISK OF
COLON CANCER, UM, ATTENTION
DEFICIT DISORDER, YOU MIGHT --
YOU MAY GET, UH, HIGH BLOOD
PRESSURE AND YOU HAVE AN ALLERGY
TO PENICILLIN.
SO YOUR DOCTOR WOULD JUST PUT
THAT IN THEIR LITTLE MACHINE AND
SAY, OKAY, UH, LOOKS LIKE YOU
BETTER GET EXERCISING AND EAT
HIGH FIBRE.
YOU KNOW, IT MEAN IT COULD BE
THAT KIND OF THING THAT SORT OF
HAPPENS.
SOME OF YOU MAY HAVE SEEN
GATTACA,
WHICH WAS A
MOVIE ABOUT GENETIC TESTING,
WHERE PEOPLE TOOK A HAIR AND PUT
IT INTO A LITTLE BOOTH LIKE A
LITTLE ATM MACHINE AND, UH, WHAT
THAT GAVE YOU WAS THE
PERSONALITY PROFILE OF THE
PERSON WHOSE HAIR YOU TOOK, SO
PEOPLE DID THAT AS A, A
PRECURSOR TO ANY KIND OF DATING,
UM, JUST TO MAKE SURE WHO THEY
WERE GOING OUT WITH, SO, UM, I
MEAN, IT'S FASCINATING WHAT'S
POSSIBLE.
SO I THINK GENETICS IS LIKELY TO
CHANGE OUR LIVES, BY ALLOWING US
TO, TO KNOW ABOUT OUR HEALTH AND
DISEASE PREDISPOSITIONS.
UM, IT CERTAINLY WILL SHOW THAT
WE'RE ALL MUTANTS, 'CAUSE WE ALL
HAVE MUTATIONS.
UM, IT'S GONNA SHOW HOW SIMILAR
WE ARE TO SOME PEOPLE AND HOW
DIFFERENT WE ARE IN OTHER WAYS.
IT MAY CHANGE OUR LIVES THROUGH
WHAT I CALL “GENETIC
DETERMINISM.”
IF YOU FIND OUT THAT YOU HAVE
THE GENE FOR SOMETHING, ARE YOU
JUST GONNA GIVE UP AND SAY,
WELL, IF I HAVE THE GENETIC
PREDISPOSITION TO LUNG CANCER, I
MIGHT AS WELL SMOKE, WHAT
DIFFERENCE IS IT GONNA MAKE?
IT'S CERTAINLY POSSIBLE THAT IT
COULD DO THAT FOR SOME PEOPLE.
IT REALLY RAISES THE ISSUE OF
NATURE VERSUS NURTURE, UM, WHAT,
WHAT'S MOST IMPORTANT,
ENVIRONMENT, UM, OR GENETICS.
IT RAISES THE ISSUE ABOUT, UM,
ACCESS TO CARE, ARE WE GOING TO
CREATE, UH, A SECTION OR A
SECTOR OF THE POPULATION THAT
ARE GENETICALLY DISCRIMINATED
AGAINST?
IT RAISES ISSUES OF
CONFIDENTIALITY AND PRIVACY OF
INFORMATION.
THE RIGHT TO KNOW OR NOT KNOW,
WILL YOU HAVE THE RIGHT TO SAY
YOU DON'T WANT TO HAVE GENETIC
TESTING OR WILL YOU HAVE TO HAVE
GENETIC TESTING?
WILL YOU HAVE TO ACT IF YOU FIND
OUT ABOUT IT?
IT RAISES THE ISSUE OF INFORMED
CONSENT, 'CAUSE THESE ARE VERY
COMPLEX, UM, TESTS AND THE
ISSUES OF PATENTING AND
LICENSING.
UM, WE'VE TALKED ABOUT SOME OF
THESE THINGS AT THE BEGINNING,
THE ISSUES OF DISCRIMINATION, OF
SOCIAL STRATIFICATION, WE KNOW
NOW THAT, UM, MANY
PHARMACEUTICAL COMPANIES ARE,
ARE INCLUDING GENETIC TESTING IN
THEIR, UH, CLINICAL TRIALS AND
THIS CAN BE OF GREAT BENEFIT TO
US IN THE FUTURE IN SOME WAYS,
'CAUSE THEY WILL BE ABLE TO
DEVELOP DRUGS THAT MATCH YOUR
GENETIC PROFILE.
SO THEY'LL BE ABLE TO SAY, IF
YOU HAVE THIS GENETIC PROFILE,
YOU SHOULD TAKE DRUG A, 'CAUSE
IT WON'T GIVE YOU ANY SIDE
EFFECTS AND NOT DRUG B.
'CAUSE THEY'LL BE ABLE TO MATCH
YOUR, YOUR GENETIC PROFILE TO
THE SIDE EFFECT PROFILE.
SO SOME OF THESE ARE VERY
POSITIVE, SOME OF THEM ARE
SCARY.

[Applause]

A slate pops up. It reads “For more information about Mini-Med School at the University of Toronto visit us on the web at: www.tvo.org.”

The end credits roll.

Mini-Med School Producer, Wodek Szemberg.

Executive Producer, Rudy Buttignol.

Logos: CEP Local 72 M and Canadian Media Gold.

A Production of TVO Ontario.

Copyright The Ontario Educational Communications Authority 2003.

Watch: June Carroll