New Technology Will Allow for Widespread Population-Based Carrier Screenings
LYNDHURST, N.J., Jan. 19 /PRNewswire-FirstCall/ -- In a move that promises
to advance physicians' ability to widely screen for Fragile X Syndrome (FXS),
the most common form of inherited mental retardation,(1) Quest Diagnostics
Incorporated (NYSE: DGX) today announced the signing of a worldwide license
agreement with U.S. Genomics. The terms grant Quest Diagnostics rights to
develop an advanced screening method for FXS based on Quest Diagnostics' and
U.S. Genomics' jointly developed genetic testing technology. Additional terms
of the agreement were not disclosed. Approximately one in 1,500 males and one
in 4,000 to 6,000 females worldwide are born with FXS.(1)
Using U.S. Genomics' applications, Quest Diagnostics plans to develop an
automated testing process, resulting in a simpler, more efficient test that
allows physicians to have access to, for the first time, widespread
population-based carrier testing.
Quest Diagnostics will develop the new test to address and resolve the
limitations of current FXS screening. Such tests currently involve a complex
combination of techniques, which makes testing cumbersome and impractical for
prenatal and pregnancy screening programs. The new test also should help
physicians, including pediatricians, neurologists and obstetrician-
gynecologists, more efficiently screen patients with mental, neurological or
endocrine symptoms that may be caused by a Fragile X gene mutation.
The American College of Medical Genetics and the American College of
Obstetricians and Gynecologists recommend that FXS testing be offered to any
child who has developmental delays or mental retardation, autistic-like
features, or other physical findings and behavior consistent with the
syndrome.(2),(3)
FXS is caused by a genetic mutation on the X chromosome, one of the two
sex chromosomes in humans. Males with FXS usually have moderate to severe
mental retardation, profound speech delays and attention deficit hyperactivity
disorder, and display some features of autistic spectrum disorder. In
addition, they may have characteristic physical features, such as a large
head, long face and protruding ears. Females with the condition have milder
mental retardation and less behavioral and cognitive impairment than males,
and generally do not develop the characteristic physical features associated
with the disease.
According to the National Fragile X Foundation, it is estimated that
37,200 males in the United States are affected with FXS, of which
approximately 9,700 are under the age of 18. The Foundation estimates that
about 62,500 U.S. females are predicted to carry a Fragile X allele (genetic
mutation).(1) Both males and females can be carriers for either the pre-
mutation or full mutation of the FXS gene. Twenty percent of female carriers
of the Fragile X pre-mutation will experience fertility problems due to
premature ovarian failure,(4) while 39 percent of male pre-mutation carriers
will develop symptoms of tremor and clumsiness after the age of 50.(5)
In contrast to other inherited diseases, such as Cystic Fibrosis and Tay
Sachs, where both parents must be carriers before a pregnancy is at risk, with
FXS, if a woman is a carrier, all her pregnancies are at-risk for having an
affected child. Population-based carrier screening for FXS would likely
identify approximately two to three times more at-risk pregnancies than those
diseases for which population-based carrier screening has already been
recommended.
Physicians currently use two types of DNA testing to screen for FXS. The
tests are highly accurate; however, because they involve a number of elaborate
steps over the course of several days, as well as a high level of technical
expertise, they cannot be efficiently applied to screen large populations.
"Our license agreement with U.S. Genomics demonstrates our continued
leadership in carrier-based genetic testing for at-risk patient populations,"
said Joyce G. Schwartz, MD, Vice President and Chief Laboratory Officer, Quest
Diagnostics. "We feel the U.S. Genomics' technology will enable us to create
an accurate, efficient screening test for FXS and other common causes of
inherited mental impairment."
"U.S. Genomics is excited to work with Quest Diagnostics on these
important applications," said John Canepa, Chief Executive Officer and
President of U.S. Genomics. "With this robust new testing technology, there is
the potential to dramatically expand the screening market to include all of
the estimated 4.2 million pregnancies in the United States each year."
About Quest Diagnostics
Quest Diagnostics is the leading provider of diagnostic testing,
information and services that patients and doctors need to make better
healthcare decisions. The company offers the broadest access to diagnostic
testing services through its national network of laboratories and patient
service centers, and provides interpretive consultation through its extensive
medical and scientific staff. Quest Diagnostics is a pioneer in developing
innovative new diagnostic tests and advanced healthcare information technology
solutions that help improve patient care. Additional company information is
available at: http://www.questdiagnostics.com.
The statements in this press release that are not historical facts or
information may be forward-looking statements. These forward-looking
statements involve risks and uncertainties that could cause actual results and
outcomes to be materially different. Certain of these risks and uncertainties
may include, but are not limited to, competitive environment, changes in
government regulations, changing relationships with customers, payers,
suppliers and strategic partners and other factors described in the Quest
Diagnostics Incorporated 2005 Form 10-K and subsequent SEC filings.
(1) The National Fragile X Foundation. Summary of Fragile X Syndrome.
Available at: http://www.fragilex.org/html/summary.htm. Accessed
December 2006.
(2),(3) American College of Medical Genetics. Fragile X syndrome:
Diagnostic and carrier testing. Am J Med Gen 1994;53:380-381
American College of Obstetricians and Gynecologists. Fragile X
syndrome. ACOG Committee Opinion. No. 161, October 1995:25-26.
(4) Sullivan AK, Marcus M, Epstein MP, Allen EG, Anido AE, Paquin JJ,
Yadav-Shah M, Sherman SL. Association of FMR1 repeat size with
ovarian dysfunction. Hum Reprod. 2005 Feb;20(2):402-12. Epub 2004
Dec 17.
(5) Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA,
Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K,
Grigsby J, Berry-Kravis E, Tassone F, Hagerman PJ, Penetrance of
the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation
Carrier Population. JAMA 2004;291:460-469.
SOURCE Quest Diagnostics Incorporated
CONTACT: Laure Park - Investors, +1-201-393-5030, or Jennifer Somers
Media, +1-201-393-5700, both for Quest Diagnostics
Web site: http://www.questdiagnostics.com
http://www.fragilex.org/html/summary.htm