Limits of DNA Testing Kits with Baystate Health’s Dr. Mary-Alice Abbott | Connecting Point


>>COMMERCIAL DNA KITS HAVE BEEN
GROWING IN RECENT POPULARITY WITH THE PROMISE OF OFFING A
WINDOW INTO ONE’S BACKGROUND D ANCESTRY. WHAT ARE THE LIMITATIONS? I SAT DOWN WITH DR. MARY
ALICE-ABBOTT TO FIND SOME ANSWERS.>>THERE ARE A NUMBER OF
DIFFERENT SORTS OF KITS THAT ARE AVAILABLE TO THE CONSUMER AND
THE FOCUS IS ANCESTRY INFORMATION. SOME KITS OFFER INFORMATION
ABOUT SOME SORT OF HEALTH PRE-DISPOSTIONS AND THIS IS
ANOTHER TOPIC THAT’S INTERESTING TO TALK ABOUT, ABOUT WHAT IT CAN
REVEAL AND CAN’T REVEAL. AND A LOT OF THESE COMPANIES
HAVE SET UP WAYS TO, ONCE YOU’VE UTILIZED SOME SORT OF GENETIC
TESTING KIT, TO LINK YOU TO POTENTIAL RELATIVES. SO THOSE ARE REALLY THE THREE
KINDS OF THINGS THAT ARE HAPPENING RELATED TO DIRECT
CONSUMER GENETIC TESTS.>>LET’S BRANG BREAK IT APAR. THERE IS THE ANN CESS ANCEE
PEOPLE ARE ALWAYS INTERESTED IN AND I THINK IT PURPORTS TO TELL
YOU WHERE YOU CAME FROM.>>RIGHT.>>BUT IT’S SWABBING YOUR CHEEK
AND TAKING A LITTLE BIT OF SALIVA.>>YES.>>BUT WHAT INFORMATION CAN YOU
FIELD FROM THAT?>>I THINK THIS IS THE MOST
ROBUST PART OF THE TEST. IT APPEALS TO A LOT OF PEOPLE
AND THE SCIENCE BEHIND THIS PART OF THE TEST, IN MY OPINION, IS
THE STRONGEST.>>SO 70% ACCURATE. HOW WOULD YOU CHARACTERIZE?>>SO —
>>HARD TO SAY?>>MORE THAN 70% INCH IS A
THIS LOOKS AT VERY SMALL VARIATIONS IN THE GENETIC
MATERIAL THAT EVERYONE HAVE AT A YOU MAY CARRY THE LETTER A,
WHEREAS I CARRY THE LETTER T. IT VARIES, IT DOESN’T CAUSE
DISEASE. IT’S JUST PART OF YOUR GENOMIC
VARIATION. AND IF YOU USE THAT, THOSE
VARIATIONS ARE TRACKED OVER THE HUMAN HISTORY AND SO, COMPARING
YOUR PROFILE OF SNIPS TO WHAT WE KNOW ABOUT WHERE THOSE SNIPS MAY
HAVE COME FROM, YOU GET A PRETTY NICE PIECE OF INFORMATION, A PIE
CHART OR A DISTRIBUTION OF WHERE YOUR ANCESTORS CAME FROM.>>WHICH IS HOW WHEN THE KIT IS
RETURNED TO PEOPLE, IT CAN SAY, OH, MOST OF YOU COME FROM ITALY.>>RIGHT.>>OR SOMETHING LIKE THAT.>>RIGHT. AND INTERESTINGLY, AS YOU TALK
TO YOUR FRIENDED FRIENDS OE WHO USE THIS TESTING, FOR THE
MOST PART YOU’LL HEAR PEOPLE SAY MY MOTHER SAID I’M ITALIAN AND
I’M ITALIAN.>>CONFIRMING WHAT WE MIGHT
ALREADY KNOW ABOUT OUR FAMILY HISTORY.>>RIGHT. BUT SOME PEOPLE DON’T HAVE THE
LUXURY OF AN ORAL FAMILY HISTORY FOR WHATEVER REASON AND MAY HAVE
INTEREST IN, ARE THERE OTHER PIECES OF INFORMATION OR OTHER
SORTS OF CULTURES THAT I MIGHT BE INTERESTED IN LEARNING ABOUT
THAT MAY BE PART OF MY OWN ANCESTRY AND THE TEST IS VERY
GOOD AT DOING THAT.>>SO SOMETHING THAT ASSUME YOU
THINK THE TEST MAY NOT BE AS GOOD AT ARE THE TESTS TO TELL
YOU ABOUT CANCER RISK OR THE LIKELIHOOD THAT YOU MAY PASS ON
A CERTAIN DISEASE TO AN OFF-SPRING.>>RIGHT.>>SO MORE AND MORE OF THESE
DIRECTED CONSUMER TESTS ARE OFFERING SOME SORT OF HEALTH
TYPE INFORMATION AND THIS IS THE AREA WHERE I THINK THE CONSUMER
NEEDS TO BE VERY CAREFUL AND REALLY UNDERSTAND WHAT IS
HAPPENING WITH THIS TESTING. THE SAME TYPE OF TECHNOLOGY IS
USED TO LOOK AT, OH, IS THERE SOME SMALL GENETIC VARIATION
THAT MIGHT PUT ME AT INCREASED RISK FOR SOME SORT OF HEALTH
CONDITION. THERE’S REALLY TWO CATEGORIES OF
HEALTH CONDITIONS AND TECHNOLOGIES THAT ARE USED HERE. AND ONE WILL SAY SOMETHING LIKE
YOU MAY BE AT INCREASED RISK FOR HEART DISEASE. BUT THESE ARE THE SORT OF
GENETIC INFORMATION THAT PUTS YOU AT INCREASED RISK BUT IT
DOESN’T REALLY CONFER THE KIND OF RISKS THAT YOU KNOW YOU HAVE
A SPECIFIC DISEASE OR YOU KNOW THAT YOUR CHOLESTEROL IS A
CERTAIN LEVEL OR YOU KNOW YOU’RE A SMOKER. THIS MAY PUT YOU AT HIGHER RISK
THAN THE GENERAL POPULATION BUT DOESN’T TAKE INTO ACCOUNT TRULY
YOUR FAMILY HISTORY, YOUR WHOLE HEALTH PICTURE.>>SO IT’S NOT DYING SAYING E
THIS DISEASE.>>CORRECT, SO I WOULD BE
CAREFUL IN INTERRUPTING THOSE TYPES OF RESULTS. AS A MEDICAL GENECIST, WE DON’T
FIND THIS HELPFUL MEDICALLY.>>WERE YOU SURPRISED WHEN THE
FDA SURPRISED — I THINK 23 AND ME WAS THE FIRST TO DO IT —
THEM MARKETING THIS?>>RIGHT, FOR AWHILE THEY WERE
DOING THIS AND THE FDA SAID YOU CAN’T DO THIS. THERE’S NOT ENOUGH DATA. SO THEY DID SCALE BACK SOME OF
WHAT THEY’RE REPORTING OUT. BUT, FOR EXAMPLE, THE TECHNOLOGY
THEY’RE USING TO REPORT OUT THE ANALYSIS OF THE BREAST CANCER
GENE IS SIMILAR TO WHAT WE USE IN LABORATORIES IN MEDICAL
GENETICS BUT THE AMOUNT OF TESTING THEY’RE DOING IS VERY
LIMITED AND SO IT DOES WORRY ME A LITTLE BIT THAT SOMEONE MAY
THINK THAT THEY HAVE HAD THE SAME SORT OF TESTS THEY’RE
GENETIC COUNSELOR MAY ORDER WHEN IT’S A MUCH SMALLER RESULT AND
THAT TESTING CAN BE DIAGNOSTIC AND THERE’S
DIFFERENT TYPE OF TESTING. WE’RE FINDING THAT TESTING DONE
IN THIS KIND OF VENUE MAY NOT BE ACCURATE AND IF IT’S DONE AGAIN
AT A MEDICAL LABORATORY, THE RESULTS ARE NOT CONFIRMED. YOU HAVE TO BE CAREFUL.>>WOULD YOU ENCOURAGE SOMEONE
IF THEY DID THIS TESTING, THAT WAS EITHER SCREENING FOR EITHER
OF THESE DISEASES WE’VE TALKED ABOUT AND THEY GET SOMETHING
THAT MAKES THEM UNEASY, IS THAT AN OPPORTUNITY TO OPEN UP A
DIALOGUE WITH THEIR HEALTHCARE PROVIDER?>>YEAH. I WOULD RECOMMEND THAT, STARTING
WITH YOUR PRIMARY CARE PHYSICIAN TO PUT THINGS INTO CONTEXT AND
CERTAINLY REVIEWING YOUR RESULTS WITH A GENETIC COUNSELOR. IF THERE’S SOMETHING THERE, A
MEDICAL COUNSELOR CAN REVIEW THOSE RESULTS AND DECIDE, FIRST
OF ALL, NEEDS TO BE CONFIRMED, AND WE NEED TO MAKE SURE IS
ACTUALLY ACCURATE. HOW DIFFERENT IS IT TO THE
TESTING ITSELF? IS IT A HIGHER QUALITY TEST THAT
THEY’RE USING OR USING BLOOD VERSUS SALIVA? WHAT ARE THE DIFFERENCES BETWEEN
SOMETHING YOU GRAB AT THE SUPER MARKET OR OVER THE COUNTER.>>WE TEND TO USE BLOOD AND
TENDS TO BE LESS FAILURE RATE THAN SALIVA BUT DNA IS DNA. BUT THE MOST IMPORTANT PART IS
THE COUNSELING WITH THE PATIENT ABOUT WHAT’S THE TESTS WE’RE
DOING AND WHY ARE WE DOING IT AND HOW WILL WE INTERPRET THE
RESULTS AND HOW WILL WE APPLY THOSE RESULTS TO CHANGE WHAT
YOU’RE DOING ABOUT YOUR HEALTH?>>BECAUSE YOU MIGHT GO FORWARD
WITH A PATTERN OF TREATMENT, I IMAGINE, IF YOU FIND SOMETHING
OUT?>>RIGHT.>>I READ IN THE REPUBLICAN IN
MASS LIFE, THAT YOU SAID GENETIC TESTING IS SOMETIMES NOT A YES
OR NO ANSWER AND I THINK PEOPLE MIGHT THINK IT IS. CAN YOU TALK MORE ABOUT THAT?>>RIGHT. SO YOUR TEST RESULTS MIGHT
SUGGEST THAT THERE’S AN INCREASED RISK BUT AGAIN, YOU
HAVE TO PUT THAT IN A LARGER CONTEXT. ALSO — AND THIS ISN’T SO MUCH
TRUE FOR THESE OVER-THE-COUNTER TESTING BUT IN GENETIC TESTING,
WE DETECT THERE’S A VARIANT OR DIFFERENCE IN WHAT WE CONSIDER
THE NORMAL REFERENCE. BUT WE DON’T KNOW IF THAT
VARIATION CAUSES DISEASE OR DOES ANYTHING. IT COULD BE SORT OF NORMAL HUMAN
GENETIC VARIATION. SO IT’S NOT ALWAYS A BLACK AND
WHITE ANSWER. THERE ARE 25,000 25,000 GENN
YOU’RE LOOKING AT ONE LETTER OF ONE GENE EXPECTING A BIG IMPACT
ON YOUR HEALTH, THERE’S A LOT OF THINGS HAPPENING THAT CAN AFFECT
THAT.

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