Genetic Testing Through a Lifetime. A free Webinar from NF Mid-Atlantic

Hello, I'm Barbra Levin, Execuive Director of Neurofibromatosis Mid-Atlantic.
Welcome to "Genetic Testing Through a Lifetime".
I want to thank you so much for joining us for this very exciting and informative
program.
We're very happy to be sponsoring
this educational event.
Because we have some folks joining us today are hearing impaired,
I have a written down my opening remarks.
We will provide that closed captioned version
as soon as possible.
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in NF.
We'veembarked on a special effort this year it to help combat the
isolation
that can occur when someone is facing an incurable disease
such as Neurofibromatosis.
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wiki lewis
is a science writer with a p_h_d_ in genetics she has published more than
three thousand articles and is the author of the textbook
human genetics concepts and applications now in its tenth addition
assured book human genetics the basics
skull on thirteen human anatomy and physiology textbooks
and a novel and essay collections
the forever fix
gene therapy and the boy who saved it its narrative nonfiction and will be a
documentary film
doctor louis is genetic concert cary grant medical group in schenectady new
york
and teaches jenna thanks for the doctoral program of the old in march
bioethics institute of albany medical college
she guessed logs for scientific american
and has a new blog
d_n_a_ science
at public library science
shit she is a hospice volunteer
frequent public speaker and it's active with the american sav society acumen
genetics
dr weds doctor louis this website is w_w_w_
dot ricki lewis dot com
and cheese
at ricky willis
on twitter
a personal endorsement of the forever fix i read this book endless redid and
courage everyone to get a copy
now i'm anxious to see where does your doctor louis but before that time i'd
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please indulge just one moment lamp return this webinar over
to dr ricky clueless
thank you again for joining us
hi intricately thank you for joining me today
uh... your genetic information is present from when you were a fertilized
egg and it will be there
for several years many years after you die and for this reason
it's comparable properties genetic happening at various different speeches
about the human experience
okay lecture
will be i've heard of it overview of the different types of of genetic had that
we'd be contract
if you take in
aging that according to call then you may have to be notified similar to this
one it shows the three what we call modes of inheritance
but i won't focused on this
the illustrated one shows are the formal respective inheritance babe rear
diseases fit into this category
it is the bijoy shinrikyo carrier parent they're healthy happy child who had
looked at me
a typical health of the arctic heartbroken thirty pax the
keep up with a lot of ben deeley inheritance each up their children
at the one-in-four chance aka inheriting the communications
on the left of the plight of the few other modes of inheritance and autosomal
dominant paradigm which is
europe are born without the
one-parent had the condition
and each offspring faces anyone into chance of inheriting the patient
in excellent respect that
inheritance the females are the carriers and the mail
are affected with predictable frequently
genes encode protein that if what they do and it the protein that is
responsible for whatever the particular treatment
eighteen and cause the protein after at the cladding after so if there's a
mutation in that gene than the person may have weeding type of the purchase
order
but most of the things that make most of it
are not caught but there is an single gene but rather they are the culmination
of increased rest
sociated within have heretics several or many peeps gene
as well as environmental influences some of which fortunately are controllable
uh... the types of genetic tests are summarized on that
and it made me feel like a lot of information that one articular supplied
by a dime it's kind of a summary of out the rest proc
the types range from all cannondale
the first half of genetic testing a classic one based on length of the
doctor and other health professional no certain collection of pet them
it matches what they know about i think the car broke that powell
of childhood failed to gain weight and have bulky sweat
frequent respiratory infections might trigger he aftab years ago today at the
press for newborns
um... inborn error that might have a little show up at bird will go over all
of these in a little more detail in a minute
single gene mutations in the one-sided mentioned on the path y
someting just increased flexibility of getting a particular located telnet and
that leads to a great deal of this information
the proper one and two
uh... breast and ovarian cancer genes for example
well greatly increases the graphic that a woman or man may develop
the breast cancer but it's not one hundred percent and in fact if you can't
sort of on your ethnic background weapon risk actually has
an eight bony or economic climate acceptability jeanette apartheid minute
up until a year ago ago many genetic studies were called gyi a horrible
acronym for genome-wide appropriations study
and then studies ab basically showdown
collections obscene that after variant
or present near eighty registered something code every five the data and
type of technology is sort of been supplanted by direct genome frequently
keep repeat in the d_n_a_ frequency of me on the right the d_n_a_ frequented
eighty the g
throughout the genome are scattered shortly please such as eighty g_a_t_t_
agency
and every component valve credible language other than the genetic code
itself
measuring that repeat and comparing the number of repeat among individuals but
they do
of a lot of different fic testing that's done
on d_n_a_
speed next example paul account frequent thing
and hold genome sequencing are pretty much what dominating the field of
genetics right now
the ac home is the part of the genome that held felt the how to make protein
and it sounds a little creepy but at the only one percent of the genome
harassed are the control
so in order to really industry and going on we need to be doing old senile
equipping but in the meantime
he excelled frequenting it's done with chip
microarrays that have studies on them
little pieces of d_n_a_ that correspond
to all of the protein including parts of the genome so they can provide
a tremendous amount of information
okay
maya
screen-a-pro ten
okay here we go
um... that example of a single gene burst into the hall acecomm equipping
evan out a likelihood of comparing cliff's notes
poorer
pay the wizard of oz
to the entire book so
the active helmet
for what we know now the most important part
and it's bronwyn aids
president cannot find right now
belittled by on the left corey hi my book about gene therapy department his
p_f_ labor congenital amaro that right through it
a former credit he replied yet
at the time that he was protected i think about twelve different forms of lp
a were known
each one caused by a different gene and cory was lucky he had one of the more
common forms and genetic test results came back to back that and that
not wonderful but at least wonderful to know what's wrong with you
well cabin on the right here in dreary cold
he had every type of the book to try to complain complain that they can propel
decline
and finally his entire expelled frequent and last november
thirteen was identified but i've written about him quite a bit heap
we've been incredible little cat and at that point that parents but i don't know
him and interestingly
because if you can't be developer incredible musical daliberti year
anything
and anti-nafta though of people with the blinded tend to develop their other
other sent that to get along in the world
but either two little boys and credit
close to have benefited from from genetic testing
so i would like to go through fifty times went to her
uh... b
try to keep my phone
before contraption their something called comprehend
carrier passing
there are
tests now for nearly five hundred defense of childhood diseases and the
goal here is to test people before they have children to find out that they are
carriers or the named it the an inequity each child had to be one-in-four chance
of having the condition
the diseases backed up before are highly penetrate that genetic jargon
for if you have any patient it's a pretty good chance that you got a happy
located picnic
scrapper seventeenth you can't have a mutation that purchase sheer luck or the
protector of the fact that the second scene
not actually have the effect that kind of all positive
would be a developing all that work
the comprehensive carrier happening
baby on pain organization that's been around the nineteen eighties called
store you shoreham they are in the orthodox jewish community in in brooklyn
new york
and for many years they've had a system
that and not a monthly perhaps young people or jewish genetic at the group
and it's two people planning to marry carry campaign these gene
your poll that patient
find an alternative types at the top shannon or not having children are
finding different partners
and help a little hard work but it has worked fairly well
and at the direct result of to reassure unpaid tax pretty much gone from the
ashkenazi jewish community
the comprehensive carrier testing is to try to intervene before people
succumb to hear it
a little another intervention a little bit later is something called
pre-implantation genetic diagnosis
i know that the latter information being thrown at you here
but this technique if the developed in nineteen eighty nine it appears in the
news every few years that brand new but it's not
occur if a couple of having in vitro fertilization
some of the fertilizer agarwal out that the pipeline so that they foreman eight
help embryo
and because of a quirk of mammalian development
still can be removed from a detail embryo
and protected
edit everything look ok
seven remaining self to be implanted in the uterus and they can go on to develop
into a baby
if the embryo
hadley inherited gps
um... it can be discarded most parents donate
packed embryo or bird arthur tour developed themselves
but again if it's not a little baby in a path to a bit in one cell that would be
ordered are used for research
pre-implantation genetic diagnosis if used
to generate what are called behavior doubling any precedent here at the
nineteen ninety nine
when the little girl named molly max was dying at and coney anemia
and her parents conceived her little brother adam at the match
immunol
based on the new customer max that way for she wouldn't
rejected cord blood himself and he all but didn't captain connie anemia though
ni conception and birth at adam paper wife molly and
these people were given a lot of plaque on the today show i remember the
afterthought but now with a fifty done more often than they would be pinned
a novel by jodi could call about this
whole idea figures dublin though
the uh... pre-implantation genetic diagnosis is increasingly
being used within teacher part of the nation people back
the embryo most likely make it
slideshows some familiar and unfamiliar technique
and they have to keep it has been around for decades
cory o
chorionic died sampling it than a little bit earlier in pregnancy tapped by ten
weeks
and that is a little bit more risky but if they're out for a while to do
when it's never really been developed people felt sorting it's impossible to
get people valves from the maternal circulation for many years
but the technique is never pin
inexpensive enough trick to be very widely adapted
and party that was from one of my tax books shows they carry a type of food
the chart of human chroma now
back when i was in graphical we had to take pictures and you can actual thief
with these charts but now quest
computer aka microscopes to company-owned
smokestacks writing his technology-based detecting people d_n_a_ in maternal
blood because it's not
very invaded by other than that the trip to the woman's again
the basement the technology effect fetal d_n_a_
tends to be shorter and maternal d_n_a_ so it can be defined collected
and this can be used to look for inherited defeated
it computer chromosome condition touched down syndrome it can be used to check
paternity
and really important that can be used to check for new mutation
uh... with a new mutation p
field has uh... condition that didn't because either parent mistake to happen
for example implements more fit them with the parents will be at normal
height
if they keep that give birth to a nautical dominant child who have worked
with them
be costly mistake occurred in the firm or the act not in the mater or the
father
fit into the technology that will be coming down the line
quite a bit
uh... newborns screening have turned on for many decades with a very simple pat
called the capri pants
it is blood sampling from the hue of the newborn on usually the third day after
birth
an analytical cemetery technical met spektr octopi
if you'd data like the molecule in the child fly through it
usually not to get a big twenty that knapsack it's just a blurred cheaper
deepak deepak inborn errors with a couple of them
and the ones that are included tend to be the ones that we can't treat fierce
really like to know point and knowing the horrible long name to be that there
is anything you can do about it
newborn screening began with a screening and i think that the deeper she'll keep
oriented sneak peek at you
which untreated carpets profound
mental retardation
but at the special diet toward birth the child has a normal electro
there are several out there
conditions that can be treated that way well
there at all but the papers published about looks sequencing
the entire etc home of newborn for even detected and leaflet bioethics students
are acutely arguing
second for
the photograph on the left shows that there's a movement of people who object
to the newborn screening and to me they found somewhat paranoid and
think the government is out the two mysterious research on their child
d_n_a_
the point newborn screening dateline that it and that's why it's john
uh... there with an article in the new york times
from uh... november
tibetan eight called up board to run little and get petra
for exchange
and this exemplified
how i think some of the genetic tests are done for trivial reasons
over the past based on one particular gene
staring into that seems to be more common in elite actually
touches sprinters than in people who don't have any athletic ability such as
right now
um... accompany marketed the path and uh... the article about love at new york
city parents who were using it
to figure out what that it takes like accor or not
i'll start at my online courses with
go because really gets people talking so
i think that uh... if you think the technology should
after kid what they want to play in
subject them to attach but that's just
my opinion
uh... back in twenty ten berkeley the univeristy
at berkeley
wanted past incoming freshmen
three particular trade lactose intolerant alcohol metabolism folic acid
in the tablet them
it is really important but the parent or are they really pretty old happen that
very accurate
but the fact is that they would come coercion patil coercion and bob look at
the freshmen were made to feel that they have to participate
uh... it was not done in the medical betting at all again the new york times
covered it quite well
so economy was not really important that there was a great deal of objection
and reprogram the pulpit early before it could get underway i think it's kind of
habitat dangerous precedent
but then again my own student and one of our we could go over the director
consumer genetic testing company
some of them have elected to be
aptitude exterior
but all ages d_n_a_ testing to provide information about ancestry
replica an evolution go to that account
transplant but the health care
orbit
debasis out these taxapad
fairly temple affect the more like
d_n_a_p_ clinton between individual or groups
more recently they shared a common ancestor
gates can be applied to the forthwith study because mutations take time to
accumulate and profound change
mutation rates are known something that can be extrapolated
i'm starting to be a at the end evolution studied i think a particularly
fascinating
comparing d_n_a_ sequences in file black material for example has shown that
their are certain percentage of scenes from the end of paul in european genome
today
and i applaud a few weeks ago ah... padam
contemporary at and in the end of of call that the needs of them
their d_n_a_ show that the people premier kinney and the um... i'll show
you never be
ginny today
so we can learn about the prior to the cuban to me before we did
by comparing
d_n_a_ sequences
um... d_n_a_ it also uh... used in forensics where the repeat or looked at
to compare individual and um... that in nineteen eighty eight i wrote the cover
story for uh...
discover magazine about the first rape conviction
based on uh...
these repeat began a captive blues the technology developed in the united
kingdom
ancestry to africa particularly interested interesting cramped
gave a lecture at family tree d_n_a_ several years ago
where i've met many
groups for the family who had undergone genetic testing
and one story i wanted it to help a company it was
one of the most movie example cooperative if you put genetic testing
farewell a family
who the younger people in the family had elected happy camper to catch just make
sure they were all related to where they thought they were
i'll be there at the group within ninety six year old man
his genetic testing repeal that he was not related anybody else
though the elders other than him got together
and they decided to ever try to help them significant higher activity with
field on the family that he was raped me
and what the people to help me with that it many times and in many places
weather will baby left from or or chavan cortices without parents
another family will take the child and endeavor to help him or her that they
are not the biological parents
that there are many many cases that touched unofficial adoptions
and d_n_a_ testing to head with the elec
fill in this case it with the five th that bandwidth
much better off not knowing that he could he would've thought he could tell
why
so that was an example
of how you have to appoint logic and compassion
to genetic testing at well it's just looking at felt
okay switching gears a great deal there are several companies that do direct to
consumer genetic testing
uh... capital that followed by the way side or being
burst into other companies but the one that has persisted called twenty three
in the
it's a wonderful wonderful website with all sorts of information
and isn't state-by-state in new york state where i am you're not allowed to
take their tax cut in tel aviv state they are
and their term profits in place now that may be
f_d_a_ bulletproof their testing
some of the trade too trivial such as our caller
whether you can pay theater didn't broccoli or not and whether you have
sticky wet or dry your whacking
so these are what i consider somewhat trivial trade specially
the eye color when you come with their psyc twenty three may have thought that
that perhaps for a lot of really comand orders
and that is important because heeded generally not
single chained to people
and the only way to figure out which gene contributes movies the to look at a
lot of people
at twenty three may have a built-in huge quiet page
and in fact with all of their database they were able
to identify new
gene behind parkinson's the in about nine months it with work
that might have taken
regular grant funded research may be a technique to do
so twenty three in the sort of started out as of the bad guy if i remember when
they were introduce and at different company with introduce
at the annual genetics meeting
alpaca back eight years ago maybe long ago
but they kind of have to prove that they're really quite valuable after all
and they've done wonders for educating the public about genetics
moving on in the life and
uh... oppenheimer's these spirit eighteen called april lipoprotein before
and if you have one copy of a mutation in the gene it mean to have a three fold
increased risk of developing alzheimer's disease
if you've got indications that you one mutation and each copy of the gene
u_s_f_-fifteen called increased
in risk of developing opera versity
for the big question is would you want to go
most people i've spoken to say they would want to know but i with never want
to know it wasn't my future because every time i
displacement cell phone i would think of the contents of that i felt
once lift that way but you know but it's a way for the youth pastor kurt not i
don't think i think he's number two party quite enough even really known
about the connection it yet
welfare reform imaging technology long that will provide complementary
information
that may actually be more important
um... moving on
at the end of the wife and probably the most important people in genetic testing
or those with with pat their one hundredth birthday centenarians
and there's a study going on at the tufts university on the people and on
some other place well
and bear important because they've made it they've done something bright they've
been healthy and it would help all the you know what paper right
so far restrictions that identified single teens that are very important in
eighteen
and that you might expect these involve immunity
hookups which have eleven now michael which have to cancer
lipid metabolism response travel and anti-oxidants
so far it's been found that what people don't all share never having smallpox
and never having had collected the
interestingly locked up in the past cancer which i thought was really
good news of having a cancer now
because it means that an awful lot of people with within survived cancer
people with past one hundred we'd have to get there my grandfather with two
hundred and preeti etc ourselves
it can happen
finally genetic testing can be done long after you're dead
and that leads to filling in for the whole in the history such as whether
jesse james's body and his grave looks really check teaching which i think we
could actually work
either romanov family perhaps one of the most famous example
of d_n_a_ testing that helped elect in a fight
the people in the grave by comparing them to modern-day
relative to do with them
uh... special type of mutation in the might occur during d_n_a_ in the room in
our family and i have to have an appointment
another famous tapes with um... thomas jefferson
it's eldest son
being easton being the uh... offspring opera
slave valley having that was confirmed with d_n_a_ typing on the panel l_ y_
chromosome
and that let do some wonderful book and film pinatubo
extended family get together once a year to calibrate your heritage
and be final applied
um... i think u r l for
credible equally but not totally fictional account
i wrote for the plaintiffs the american blog early in the bummer
about what it would be polite in
genome sequencing with required by law
at some point early in her live her even before birth and then that information
with use track our lives
for years just sort of like in the film
scatter cup
so that's one thing i wanna kind of get everybody thinking about
boyd having much
a technology p an invasion of privacy witopia opportunity for people to
paramount
or would it be something that would help us anticipate health problems and
perhaps take care of them
before that surface
so i think that
one more so i just uh...
shameless plug for all of my book um...
the textbook in the lower right corner is seemed very expensive because it x
book
i broke a little book about that because it's extremely in a couple of days and
have potentially that payment formation without the real pretty pictures
its architectural highly readable it's not a pack for chronology
the picture next and then of course forever to pick up a story about the
little boy and one of the early live
who with fewer definite flying that with gene therapy
it's a pretty amazing story the little boy four days after the gene therapy
with a philadelphia filth
and he looked up at the skype because the other papers screaming about a hot
air balloon the screamed because it was the first time
in everything they've done
and that the house the book begins so i think that uh... the and then i'll be
happy to take you a question
thank you rikki that uh...
that was wonderful i've learned a lot we do have to play
um... and high encourage
any of our attendees at this point to write more
uh... in your question pain on the right hand side but in the meantime indulge me
for a second uh...
had mentioned about
basic your basic tests tax human genetics the basics not costing as much
to you
a bit of a price
how you can find them on amazon howard
human genetics one news
somewhere between sixteen and twenty dollars eminently affordable
experi uptodate com
attack talk about a hundred and forty something i had nothing to do it without
prices on and it's not
and the forever fixed
on amazon epithets next in dollars but the paperback coming out january eight
okay cheaper
congratulations dan any
may not attend or or whatever
of course
um...
well let me go to the question some of them came early in and that you may have
the answer to these questions but let me ask anyway uh...
with a question
saying asking
ken genetic testing
be done without results shared privately
and without information in medical records and without insurance companies
snowing about the rest of the results
test or the results
that's a really excellent question not already served you know
and i think it with with the early days of the press kamchatka patients who come
in and take it under a different name
too that it wouldn't go into the medical record that was one way around it
um... with a twenty three and the mike didn't he took their she took a crack a
one-time after twenty three of the people who are cheaper than taking it
through
accompany them fail to pass
um... and she used to teeth made of the named because she didn't want it's
getting out
but you're not a part of the he lives for the anymore there's been a lot of up
legislation
ct contact
in protecting people
now you have to talk about other victoria now if that's a good you are
david at next back questioned someone
always asking uh... about the cost of genetic testing
it gary bypassed it could be really extensive uh... com are going to go down
but for now and you know if you get to the entire proper wanted to change
frequently without thirty four hundred dollars
it's myriad genetic frequently company that patented pacino thing in the new
comfortably for one that i can remember fighting back
over whether to capture dot if you have thirty four hundred dollar before the
entire sequence
they were quickly you can't get insurance to cover it and if you've got
a strong family history
up certain cancers appearing at a young age insurance vote i think will cover
the pat you can take a short version upbeat brackets have that look for two
of the most common depiction
what might student did when she took a test of twenty-three in me and i believe
that with only about ninety nine dollars
because it's not a medical packet to pick up twenty three and a prophetic
educational an informational
but my buchanan result slavery in the eventually spoke to a genetic now
popular agitate for
and she did a whole bunch of research and found out that the exact perhaps but
pretty much the pain
everyone premiering
at genetic
the one to twenty three and he was not a petite equip it was just looking for the
common patient
but many students new which he takes her mother had
so she would be able to help get that epixtech before
for laughs private
will become again
and you can do things uh...
copy well-liked jewish genetic the panel which i think now nineteen
he's ana though
the private area and they are coming down and you can find some of them
online for example hereditary yahoo com account barely
common single gene disorder and detailed google that there's an organization
between
you can't do testing
kennedy genetic counselor to interpret results for the red apparent democrat
republican for example
i think it's about ninety presented the people
with the mutation gold ever actually kept at though that can happen so you
need to check it out for
tell you about the with good people coming in
greatness
thank you
large trying to go through uh...
our questions we have a lot
during beat
uh... excuse me on i'm not very good at this during the pre implement
oakland pgp other thank you
testing
he said that one cell is taken out and tested what is the percentage
that the old tell one of the other seven cells contains mutation that you are
testing for
proquest you're looking at normally combing member exactly
inactivate
they knew because both parents both parents scarier than they knew that the
capital girl with etc
though each embryo they can
cheap would have a one unfortunate
know the embryos that with a one-in-four chance of being completely with
application a-one impor tant uh...
having the ditsy and it to or wanted to do
chance of being a carrier like here
no at the family of a book or were able to put a little boy
became redevelopment adam
because he didn't have the disease
and matched help purposes but the pictures but with the bilkul court what
would be able to
say that's why i think that's a lot of global dominant condition the chance
would be one interview
well
thank you
another questions coming i repeat are uh... until i could talk show hosts
hard to children
been diagnosed with an ethical one
both are doing well and and have a few outward physical signs of the two sorter
neither
ship and neither me or my husband have signs of an f_ one nor do we do have a
family history of it and that's what it
we are waiting on strand number one genetic testing i don't know if i said
that correctly
for our
fifteen year old son and are near twenty year old daughter may be tested based on
his on
her results
how often have you seen these ides as the geneticists at the odds tooth
spontaneous an f_-one mutations
are one in mind
at would agree with that that pretty incredible
if they're not planned act
that that
you were to happen actually have to be effective people mild but it could be a
little brown spot on attackers something i'm sure you've
extent but i would expect one if you have got it
and it could be a pain
uh... not
cuba applications but they don't have the phenotypic
it that would happen if common or network nine million quickly that
they cut with his wife to get the other children template as well
you know if it was just one childlike make sure that the new mutation but
dot jpg
i'd say the attack ucla family for exiled
uh... happpy
go to the event
these companies have totally week property
thank you
uh... another question
all that is just making relative to where variance contrarians
of uncertainty mexicans
who just provide measurements may not be able to provide interpretation
we took a wonderful audience out there there much smarter than i a m but did
you get that question
yet they can actually make a graduate student the one who had the casting for
the uh... brac lynching twenty really
seated at the effect on this variances uncertain significant
it's really really scary it something that's been around actually for a long
time you have a practitioners video
follow your genetic test results came up that normal but we don't know what it
means then you're supposed to live with that
so the truth something that's been happening more and more at what we've
learned
more about the genome terrible lot apparent everyting attendant provisional
type of a problem
and they're going to be what we think that don't have any meaning and going
though that they have been constantly undo strata
um... there have been around for a while because mam friend of mine smile little
boy little boy it's now at the retreat collected many years ago
called me up when they were pregnant because paired they came back with an
abnormal family or retell so it's not just the new technology abnormal and
their results showed that it was the forty and they would have been wrong
with the white chromosome that infection at the white chromosome have been
inverted so my first
reaction what tell my friend the father that anything at wipro bpo
because if you could mean for dependable boycott of prohibit it wouldn't be a
problem
turned up at the father flight crew of the public normal
but then what i did with that in the literature before computers
and to try to find if anyone who'd been
reported within person tell arthur with a little boy conversion wife and i i
couldn't find anything
so they took their chance that and they went ahead with the pregnancy and the
point
if i decrepit he's got an inverted y_ chromosome
and it's possible that will have an infertility problems down the line it
that inversion interrupted a particular teaching but
medic medic at their chances of a really really nervous for a long time adaptive
genetic finding and all i could pick at the time with if they didn't know that
would not worry
you know if you can get the information many people want to get it so
gathered at the really great questions uh... area uncertain significant
happened with breast cancer testing well and i don't think i would ever want to
go through that
people could
elect nothing like a prophylactic mastectomy when they're not even sure
that need very intense
the disney
and at the terminology extremely confusing decommissioning genetic change
for the part of the negative connotation
whereas variant it could make it work for
genetic change where we don't know company think they're though it is
really confusing
old
uh... i think we have time
four oh one more question
it is
uh... some one of our
listener says hello i have three cafe lace spots and not
six
but i have to head to tumors removed
from nerves and i have a all the other symptoms but they are not sure
that i have been any forum because
i had a similar apana i don't have the six cafe au lait spots do you have to
have six or more to have this
okay you need to ask a position that i'm on that
qualified to give a clinical diagnosis
but is reminding me a great deal about the lieutenant in perfect at this
question and the question about the the couple with three children
and that is there could be another jean-claude van damme sentences than a
point in the next email
without their jennifer in perfect at the genetic cities where the bones break
very easily and in fact feeding report with airport with broken bones
and in the past
parents have been accused of child abuse secret one child who have repeated
fractures
with a lot to do with three children with the fractures
arrest the parent usually end and a contest
ticketmaster after janet that the protector
now for a while there was only one gene that with known tell parent
they help that genetic testing that genetic tests show that they keep at all
alright
they would be propagated and then and packaging with overthrow parents didn't
have either of those mutation he would be proper cuter refuse
now we're up to five gene known to cause theater the factor
so i think that this some other condition that happens and covered yet
the good news for patient is that it if it's your situation perhaps he can get
involved in a research if they don't pay for anything
which would be helping humanity and and helping yourself
but if you heard the m genetic news from last week about the genome sequencing
i stayed away from that exactly
progress reports to collect the grouping cupertino and eugene will be discovered
over the next center twenty years so
like bob that it something else cal there
that looked like it now but you still need the position to make right now
thank you
said that was our last question but we'd we did get once short question and and
doctor louis this may not be uh... question for you to as much as something
that i'm may be able to report on but uh... i'm going to ask it to you
uh... someone once said to sanitize balance issues as well
uh... i have no idea yes
ennada and that's why i would like to report uh... that
that is one of the more
then we are not physicians here
we just collect information give support uh...
provide and provide that'd
provide information session such as this and provides added uvm
referrals
one of the most
symptoms that people do report to blast
our balance issues um... particularly
when tumors are in brains
org near
in the years certainly with a m f to balance is
aid particular issue
so
as a as i said that would be a request
question i do think that some
people i want to ask you dr list some people will uh... have questions after
the weapon r
or would you mind if they send them to use and i would
forward them to you
brightness so they can email me
and that is great
uh... i thank you very very much the suspend
wonderful i want to tell i want to thank all our attendees and i was certainly
one i think doctor ricky willis encourage you altered by the forever fix
if you don't go out and spend
a lot of money on the textbook or a lot less money on human genetics the basics
and follow her blog
i'd also one
to reiterate pat
this entirely this into higher webinar
with including slides
will be tested on our website as of tomorrow
step utep utep you dot an ethnic atlantic dot org
emmett also can be found on you to i thank you very much i wish you all a
good afternoon
i hope you will consider joining our next weather
as i mentioned
uh... obsessive-compulsive disorder and in october
i buried an f_ related webinar on
optic gliomas
doctor lewis thank you so much for your time
and thank you for a minute
and thank you for a wonderful wonderful weapon are and thank you all for your
time
feel free to that
visit our website and join us again
i'm going to um... close out this weapon are now and i think he will and have a
good morning
it back