News / Health

New Test Warns Couples of Genetic Illnesses

Scientists say a new blood test could be available by the end of the year that would help couples thinking about having children to screen for hundreds of  genetic illnesses that might threaten the health of their offspring. The test is an outgrowth of the revolution in human genetics sequencing.

So-called recessively inherited disorders, such as Tay-Sachs disease, cystic fibrosis and red blood cell disorders known as thalessemias are rare.  But when they strike newborns, they can be devastating, accounting for an estimated 20 percent of infant deaths.

Tay-Sachs is most common among Askenazi Jews and French Canadian populations, while cystic fibrosis is mostly seen in  people of Northern European descent.  The thalessemia belt passes through the Mediterranean and West and Central Asian countries.

Now, researchers have developed a pre-conception carrier test capable of telling would-be parents whether they carry genetic abnormalities for almost 450 inherited childhood diseases.  If both parents carry the same mutated genes, there's a one-in-four chance they will pass that disease on to their baby.

Lead researcher Stephen Kingsmore of the Center for Genomics at Children's Mercy Hospital in Kansas City, Missouri, says investigators used the test to screen the DNA of 100 unrelated people and discovered that each one carried two to three severe childhood mutations in their DNA. "By and large, all of one of us have these mutations in our genetic code, and every time a baby is born, there's a game of Russian roulette on a certain level.  And we hope to take the element of chance out of it," he said.

Because recessive genetic mutations appear to be so common in the general population, Kingsmore says pre-conception screening - along with genetics counseling - ought to be carried out routinely before couples decide to conceive a child of their own..

Researchers say their next step is to finalize development of the test and focus on making the results understandable to physicians and patients.  Kingsmore says investigators are also looking at ways to make it available to the public for little or no cost. "Our goal, though, is to do this on a non-profit basis.  We think that this type of information is something that is important from a humanitarian standpoint.  We'd like to come up with a strategy where we can do this on pretty much anybody so that we can offer this free to those that can't afford it," he said.

Decoding the human genome a decade ago has disappointed some people who were hoping for the speedy development of cures for devastating illnesses.  

But DNA sequencing has revolutionized the field of diagnostics, according to Laird Jackson, a geneticist at Drexel University College of Medicine in Philadelphia, Pennsylvania.  

Jackson says a comprehensive screening test for prospective parents could avert a lot of pain and suffering. "If people were identified as carriers, and used that information to modify their reproductive behavior, (that) would aid in  saving costs of caring for affected children, the emotional cost of families having such children and the debility, pain and suffering that the child would suffer."

An article describing the pre-conception screening test is published this week in the journal Science Translational Medicine.

You May Like

Video Protests Continue in Ferguson, Spread to Other US Cities

Missouri officials say deployment of more than 2,000 National Guard soldiers helps curb second night of rampant arson and looting in Midwestern town More

Video Ebola, Crackdown on Illegals Hit Business in Guangzhou

Chinese city has largest community of Africans in Asia More

Video Legendary Lebanese Actress, Singer Sabah Dies at 87

Music and film diva, affectionately called 'Sabbouha' by millions of her fans, performed at Carnegie Hall in New York, Royal Albert Hall in London, Olympia in Paris, Sydney Opera House in Sydney More

This forum has been closed.
Comments
     
There are no comments in this forum. Be first and add one

Featured Videos

Your JavaScript is turned off or you have an old version of Adobe's Flash Player. Get the latest Flash player.
Aung San Suu Kyi: Myanmar Opposition to Keep Pushing for Constitutional Changei
X
November 24, 2014 10:09 PM
Myanmar opposition leader Aung San Suu Kyi says she and her supporters will continue pushing to amend a constitutional clause that bars her from running for president next year. VOA's Than Lwin Htun reports from the capital Naypyitaw in this report narrated by Colin Lovett.
Video

Video Aung San Suu Kyi: Myanmar Opposition to Keep Pushing for Constitutional Change

Myanmar opposition leader Aung San Suu Kyi says she and her supporters will continue pushing to amend a constitutional clause that bars her from running for president next year. VOA's Than Lwin Htun reports from the capital Naypyitaw in this report narrated by Colin Lovett.
Video

Video Mali Attempts to Shut Down Ebola Transmission Chain

Senegal and Nigeria were able to stop small Ebola outbreaks by closely monitoring those who had contact with the sick person and quickly isolating anyone with symptoms. Mali is now scrambling to do the same. VOA’s Anne Look reports from Mali on what the country is doing to shut down the chain of transmission.
Video

Video Ukraine Marks Anniversary of Deadly 1930s Famine

During a commemoration for millions who died of starvation in Ukraine in the early 1930s, President Petro Poroshenko lashed out at Soviet-era totalitarianism for causing the deaths and accused today’s Russian-backed rebels in the east of using similar tactics. VOA’s Daniel Shearf reports from Kyiv.
Video

Video Hong Kong Protests at a Crossroads

New public opinion polls in Hong Kong indicate declining support for pro-democracy demonstrations after weeks of street protests. VOA’s Bill Ide in Guangzhou and Pros Laput in Hong Kong spoke with protesters and observers about whether demonstrators have been too aggressive in pushing for change.
Video

Video US Immigration Relief Imminent for Mixed-Status Families

Tens of thousands of undocumented immigrants in the Washington, D.C., area may benefit from a controversial presidential order announced this week. It's not a path to citizenship, as some activists hoped. But it will allow more immigrants who arrived as children or who have citizen children, to avoid deportation and work legally. VOA's Victoria Macchi talks with one young man who benefited from an earlier presidential order, and whose parents may now benefit after years of living in fear.
Video

Video New Skateboard Defies Gravity

A futuristic dream only a couple of decades ago, the hoverboard – a skateboard that floats above the ground - has finally been made possible. While still not ready for mass production, it promises to become a cool mode of transport... at least over some surfaces. VOA’s George Putic reports.
Video

Video Falling Gas Prices Impact US Oil Extraction

With the price of oil now less than $80 a barrel, motorists throughout the United States are benefiting from gas prices below $3 a gallon. But as VOA’s Kane Farabaugh reports, the decreasing price of petroleum has a downside for the hydraulic fracturing industry in the United States.
Video

Video Tensions Build on Korean Peninsula Amid Military Drills

It has been another tense week on the Korean peninsula as Pyongyang threatened to again test nuclear weapons while the U.S. and South Korean forces held joint military exercises in a show of force. VOA’s Brian Padden reports from the Kunsan Air Base in South Korea.
Video

Video Mama Sarah Obama Honored at UN Women’s Entrepreneurship Day

President Barack Obama's step-grandmother is in the United States to raise money to build a $12 million school and hospital center in Kogelo, Kenya, the birthplace of the president's father, Barack Obama, Sr. She was honored for her decades of work to aid poor Kenyans at a Women's Entrepreneurship Day at the United Nations.
Video

Video Ebola Economic Toll Stirs W. Africa Food Security Concerns

The World Bank said Wednesday that it expects the economic impact of the Ebola outbreak on the sub-Saharan economy to cost somewhere betweenf $3 billion to $4 billion - well below a previously-outlined worst-case scenario of $32 billion. Some economists, however, paint a gloomier picture - warning that the disruption to regional markets and trading is considerable. Henry Ridgwell reports from London.
Video

Video Chaos, Abuse Defy Solution in Libya

The political and security crisis in Libya is deepening, with competing governments and, according to Amnesty International, widespread human rights violations committed with impunity. VOA’s Al Pessin reports from London.
Video

Video US Hosts Record 866,000 Foreign Students

Close to 900,000 international students are studying at American universities and colleges, more than ever before. About half of them come from Asia, mostly China. The United States hosts more foreign students than any other country in the world, and its foreign student population is steadily growing. Zlatica Hoke reports.

All About America

AppleAndroid