A Better Genetic Inheritance* How Couples Are Breeding Disease Out of Their Families
There are new methods some
scientifically advanced, others old fashioned, but all controversial that
couples are using to helt the spread of dangerous genes that have stricken
families for generations// Love at first sight* Easy enough// But what about
couples who fall in love and then learn that they are both carriers for a
shared genetic disorder? This is what my husband and I learned after almost
seven year of dating and nearly three years of marriage when we learned that we
were both carriers for Tay-Sachs disease, a genetic disorder prevalent amongst
Eastern European Jews// The twist in our story? Though I had been born Jewish,
the grandchild of Holocaust survivors who had immigrated shortly after the end
of World War II, my husband, who had converted to Judaism, was born and raised
Catholic in a small, rural community//*Sunday evening on 60 Minutes, Norah O`Donnell investigated the
ever-evolving field of reproductive genetics and the new advances in the field
that are allowing people such as my husband and myself to build their families
while also eliminating the possibility of passing on often deadly genetic
disorders// When a male and female partner both carry a mutation for a common
disorder, any biological children they have together is at risk of being born
with the disorder// Many genetic disorders such as cystic fibrosis, perhaps
the most common of such conditions can significantly alter a person`s quality
of life, while some, such as Tay-Sachs, can even lead to death, often at a
startlingly young age// Because we are both carriers of this recessive genetic
disorder, we would have a one in four chance of having a child being born with and dying from Tay-Sachs, an always fatal condition// Most children born
with it do not live past the age of five, if that// So, with the advice of both
our gynecologist and our reproductive endocrinologist, we decided to spare
ourselves and a potential child from the effects of the disease, choosing to
conceive via in vitro fertilization with pre-implantation genetic diagnosis and
pre-implantation genetic screening, a process that allows embryos to be created
and screened for both our specific mutation as well as chromosomal
abnormalities before it`s ever transferred to the uterus// For us, this was the
right way to grow our family; our daughter was born this spring// I think it`s going to be used by society in
the 21st century, just like we used antibiotics and other advances in the 20th
century, to drastically reduce the risk of infectious disease, Lee Silver, a professor of molecular biology
at Princeton and the co-founder and Chief Scientific Officer of GenePeeks, told
O`Donnell last night of the potential of procedures like PGD and other
innovations in the field of reproductive genetics// We`re going to be able to drastically reduce
the risk of genetic disease// But for others in particularly at-risk
populations are turning to other methods to prevent the birth of children with
rare genetic disorders, turning to an old-fashioned practice utilized in a
modern public health format to reduce the risk of couples ever conceiving
children afflicted with genetic disorders to begin with// Many ultra-Orthodox
Jews participate in the Dor Yeshorim program, which genetically screens the
Jewish singles in these close-knit communities — without informing those tested
of their results// Instead, the communities use traditional matchmaking
services to ensure that only individuals whose genes could not potentially
mingle in a dangerous way ever meet in the first place// As reported in Tablet,
while Carriers of a recessive mutation
for a disease are unaffected and perfectly healthy, the program serves this specific community in
an equally specific way: Such stringent
confidentiality is the by-product of a community`s longstanding stigmatization
of not only the carriers of genetic diseases but also their families// Because
of differences in the ultra-Orthodox community, the idea of doing this in a
confidential and private way is much more appealing, says Karen Litwack, LCSW and ACSM, Senior
Advisor for National and Educational Initiatives with the Center for Jewish
Genetics, a program Litwack describes as an educational and outreach program
that seeks to create a healthier and more
informed community by seeking to educate
healthcare professionals, clergy, and particularly individuals of Jewish
descent about the special, specific risks that apply to the Jewish community
when it comes to genetic disorders// When it comes to Dor Yeshorim, however,
Litwack clarifies that since in these communities people only date to get married and often use a matchmaker anyway, the Dor Yeshorim
program catches people at an early stage when people aren`t even dating yet or
involved with one another, thus effectively steering away [affected individuals] from
people they`re not //
Myths About IVF
You Need to Stop Believing However, it is not only
the ultra-Orthodox or even just Jews who should consider being screened for
genetic disorders// And for the average carrier of a genetic disorder, many
options exist beyond programs such as Dor Yeshorim, which limit potential mates
to only the genetically compatible// Clarifies Karen Grinzaid, MS, CGC, CCRC
and the Senior Director of Outreach Initiatives at JScreen, a non-profit
community-based public health initiative dedicated to preventing Jewish genetic
disorders headquartered at Emory University School of Medicine in Atlanta, I think a big misconception is that if you
find out that you`re a couple who is at risk, that there`s nothing you can do that someone is going to make a recommendation
that you not get married or you not have children when in fact there are so
many options available to that couple to help them have a healthy family// Only 2 percent of couples will end up carrying
the same gene for the same genetic disease and be at risk// So the vast majority
of the time, individuals and couples are going to walk away from genetic
screening and counseling with reassurance that they will not have children at
risk for these diseases// This is why genetic counseling is such a critical
part of genetic testing, notes Grinzaid, since a genetic counselor not only
makes sure a couple knows what they`re
being screened for, what it`s going to mean when their results come back, and
then when their results do come back, to talk in detail about not only if their
future pregnancies are at risk, but also about risks to the more extended
family// Being able to communicate to
other family members their own potential risk of carrier status is a critical
step in the management of inherited genetic disorders from a public health
perspective// There are presently so
many more genetic disorders that can now
be screened for, says Lisa Hasty, MD, a reproductive endocrinologist,
infertility specialist and co-founder of the Atlanta Center for Reproductive
Medicine// Conditions previously unknown that now have a name and are caused by a single gene that we can
test for// Things have changed a lot in
the last three to four years, Hasty
explains, from the affordability of genetic testing to the range of identified
disorders that can now be tested for to even the options available to couples
who are both carriers for a shared disorder// Any couple that comes to see us who is
planning a family, we recommend a screening, she adds, noting that such testing is now
oftentimes available even through a woman`s ob-gyn pre-conceptually something that`s different than it was five to ten years
ago// Litwack concurs, adding, ACOG recommends that all Caucasians and people
of Northern European descent be tested for cystic fibrosis and that one of the biggest misconceptions
regarding genetic testing is that only those of Jewish descent ought to be
tested, noting that interfaith couples should absolutely be tested for Jewish
genetic disorders and that all couples should be tested for wider panels of
tests that are applicable to the larger, general population// It`s important
for all couples to be tested, Hasty says, regardless of ethnic background or
family medical history since a person can have no history in their family and still be a
carrier// Concurs Grinzaid, I think the biggest misconception is that
people think with a negative family history, they`re not at risk// Especially
with recessive genetic disorders where
both parents have to be carriers, the vast majority of the time, it`s never
shown up in the family before and people are taken by surprise// And while Hasty clarifies that screening is not perfect – it doesn`t pick up
on every disorder known to human kind it
is still a critical step for those thinking of building a family biologically,
especially since genetic disorders are the
leading cause of sudden infant death// And many options exist for couples like my
husband and I who wish to grow a family but are both carriers for a like
single-gene disorder such as Tay-Sachs or cystic fibrosis// A couple can conceive without any treatment
and then get early screening through ultrasound and amnio[centesis], says Hasty// Some people are just willing to roll the dice
and accept that chance that they may
conceive of a child with a potentially fatal genetic disorder// For these
couples, they then can elect to raise an
affected child or terminate the pregnancy after early screening is done once a pregnancy
is achieved// That`s heart-wrenching,
for both of those outcomes, Hasty says//
However, that`s not the only available course of action// One long-time options
for such couples is in vitro fertilization using donor sperm or donor eggs and
yet the most common means of family building for such couples
presently is also the newest, a process known as IVF with PGD, or
pre-implantation genetic diagnosis// Because IVF with PGD is so successful, Hasty says, more and more, the people I meet with elect to
go through this form of testing embryos
for genetic disorders before the embryos are even transferred to a woman`s
uterus, thus ensuring that only those embryos not affected by the genetic
disorder are possible candidates for pregnancy// In February, British lawmakers
ruled in favor of permitting yet another new advance in the use of IVF for
those with genetic disorders, permitting mitochondrial donation from a third
donor to be used with a biological set of parents` own egg and sperm as a means
of preventing mitochondrial disease// At this time, there is no known treatment
for mitochondrial disease, so the advent of this new form of IVF, which uses
biological material from three separate individuals to create one embryo, has
the potential to be a groundbreaking action public health action to eradicate
the devastating condition// In regards to the already established practice of
IVF with PGD, Hasty calls attention to the fact that while a lot of people think that the success rates for IVF with PGD are very low, it`s in fact one of the highest success rates
that we specialists do since other things are generally in good working order in regards to the fertility of the couple//
She notes that the currently available nationwide statistics on IVF treatment
and success rates are looked at without the differentiation of those cases with
PGD, something that will be changing in terms of regulations from infertility
clinics on their IVF reporting procedures within the next few years// This new
reporting will include a break-down //
