WHENTOGO
FORTESTING
Askyourhealthprofessional
aboutgenetestingif:
Youhavea provenfamilyhistory
ofbreastorovariancancers.
“About5-10%ofcasesofbreast
and10-20%ofovariancancers
areassociatedwithmutationsin
eitherBRCA1orBRCA2genes,”
Kinnearsays.
Youhavea familyhistoryof
X-linkeddiseases.Theserange
fromAddison’sandalbinism
tohaemophiliaandmuscular
dystrophy.
“Youhavea raredisorderand
havebeenona diagnostic
odysseywithoutdefinitive
diagnosis”,asKinnearputsit.
Testingmayprovideananswer.
Thebenefitsofgenetictesting
formedicalconditionsarethat
forsinglegenedisorders,testing
candetectdiseasebeforethe
onsetofsymptoms.“Armedwith
thisknowledge,you’reable,with
thehelpofgeneticcounsellors
andphysicians,tomake
informedmedicalandlifestyle
decisions,”Kinnearadds.The
outcomescanbelife-changing,
sopre-andpost-testgenetic
counsellingiscritical.And
remember:notestisa guarantee
thatyou’llbehealthyforever.
“Weworryonlyifa woman
hasalreadyhadcancerinone
breastbeforeage35,orhastwo
immediaterelativeswhohadit
beforemenopauseorwhohad
ovariancancerbeforetheage
of30,”saysProfessorJustus
Apffelstaedt,headoftheBreast
ClinicatTygerbergHospital.
told CNBC business news recently that
there are now more than 75 000 genetic
tests, with more than 10 new tests enter-
ing the market every day. Some are for
specific disease diagnoses, but most now
focus on wellness and fitness, offered at
genetic testing labs that are springing
up all over. Many offer testing online,
delivering cheek-swab kits in the mail.
According to Global Market Insights, the
genetic testing market is set to exceed
$22 billion (R335 billion) in five years.
BLINDED BY SCIENCE?
But as genetic testing grows, so does
controversy around it. “There are com-
panies offering genetic tests that aren’t
necessarily based on solid empirical
evidence,” Associate Professor in the
Department of Biomedical Sciences at
Stellenbosch University, Craig Kinnear,
says. “There’s been an explosion of direct-
to-consumer genetic testing companies
that promise clients diet plans and fitness
regimes based on their genetic make-up.
The problem is that you can send your
sample to different companies and get
different answers.”
Two years ago, American medical
journalist, Rebecca Robbins, experienced
this when she took two mail-order genetic
tests that contradicted each other. They
delivered “different interpretations of
what certain regions of my genome
meant for my risk for tendon injuries,
for instance, or my propensity for high
blood pressure”, she wrote on health
news website, http://www.statnews.com. She
added that the advice she was given “was
either general – like stretch well before
exercise – or oddly specific, like the menu
I was given telling me to eat quinoa on
Sundays”. Genetic tests had promised
to help her achieve peak fitness.
The problem, Kinnear says, is that
while there are strong genetic under-
pinnings for conditions such as breast
and ovarian cancer, cystic fibrosis or
muscular dystrophy (since inheriting
these single gene mutations will result in
you developing the disease), for complex
traits such as obesity and fitness levels,
very little is encoded by a single gene.
“These complex traits are a result of the
interaction between multiple genes and
the environment (which includes behav-
iour like smoking and drinking alcohol).
We still don’t know enough about human
genesandtheirinteractionwithone
anotherandtheenvironmenttobeable
togiveaccurateadviceonthebestdiet
tofollow,orwhichexerciseprogramme
isbest-suitedtoanindividual,”Kinnear
explains.Infact,hesays,studieshave
shownthatgeneticsplayonlya small
rolewhenitcomestotheeffectsofdiet
andexercise,andbehaviourmatters
muchmore.“Acontrolledtrialpublished
intheJournaloftheAmericanMedical
Associationfoundnodifferenceinweight
lossbetweengroupsofpeoplewhowere
matchedtoeithera high-fatora low-fat
dietbasedontheirgeneticmake-up.
Similarly,anindependentinvestiga-
tionof 38 genesfrequentlyincludedin
nutrigenomictests(testslookingatthe
relationshipbetweengenes,nutrition
andheath)providedbyseveralprivate
genetictestingcompaniesfoundnoas-
sociationwithdietaryintakeandanyof
thesegenes,”hesays.
What’smore,differentgene-testing
companiesusedifferenttests,genes
andscientificliteraturetoreachtheir
conclusions,Kinnearcontinues.“Sothe
resultsofdirect-to-consumergenetic
tests,inparticularthoseteststhattell
youexactlywhichexercisestodoand
whattoeat,shouldbetakenwitha grain
ofsalt,”headds.
THEBOTTOMLINE
GeneWatchUK,a not-for-profitgroup
thatmonitorsdevelopmentsingenetic
technologies,reportsthatformorethan
15 yearsithasexposedcompaniesmak-
ingmisleadingclaimsabouttestresults.
“Genetictestsarenotcurrentlyregulated,”
itnotes.“Thismeanspeoplecouldeasily
bemisledabouttheirhealth.Without
properregulation,genetictestingcould
beusedtoexpandthedrugmarketto
healthypeopleidentifiedasathighgenetic
risk;peoplewouldreceiveunnecessary
medication;andtheunderlyingcauseof
heartdisease,cancerandobesitycould
beignored,withseriousimplications
forfuturehealth.”Thegroupconcludes
thatformostpeople,eatinga balanced
diet,gettingenoughexerciseandnot
smokingaremuchmoreimportantin
determiningyourhealththanyourgenes
are.Talktoyourdoctorfordietadvice
orvisit:www.adsa.org.za/Portals/14/
Documents/FoodBasedDietaryGuide-
linesforSouthAfrica.pdf.
HEALTH
WWW.TRUELOVE.CO.ZA (^) |^2019 OCTOBER (^) | (^95)
IMAGE Gallo Images/Getty Images