Researchers claim breakthrough in detecting genetic disorders pre-birth

[Lite Beer]

Researchers claim breakthrough in detecting genetic disorders pre-birth
Patcharee Luenguthai
The Sunday Nation

BANGKOK: -- Samitivej Hospital has claimed a significant medical advance - Next Generation Sequencing (NGS) - Thailand's first-ever medical innovation enabling specialists to examine and identify carriers of 600 genetic disorders before birth.

Doctors say the procedure will eliminate potential risks before birth, and also determine if embryos of couples who have an infertility problem are free of complications.

News of the breakthrough was released by Boonsaeng Wutthiphan, an obstetrician and gynaecologist who specialises in infertility and gynaecologic laparoscopic and hysteroscopic surgery at Samitivej Sukhumvit Hospital. He said the success resulted from collaboration between public and private organisations - Samitivej, a research team at the Medical Genome Centre at Ramathibodi Hospital, plus Thailand Centre of Excellence for Life Sciences (TCELS, Leader Medical Genetics and Genomics Co (LMGG) and the Thai Reproductive Genetic Co (TRG).

Boonsaeng said the achievement was the result of five years research. NGS is regarded as an advance that will allow Thai medical services to identify genetic disorders that can be passed from one or both parents to their children.

He explained that previously hospitals could only check for thalassemia, which is the most common genetic disorder in Thailand.

At present, there are about 60,000 patients with thalassemia in Thailand (excluding carriers). Now, Samitivej and other hospitals under the Bangkok Dusit Medical Services (BDMS) can diagnose carriers of up to 600 genetic diseases.

They include 12 common genetic disorders - thalassemia, duchenne muscular dystrophy, haemophilia, amyotrophic lateral sclerosis (ALS or MND), deafness, spinal muscular atrophy (SMA), galactosemia, phenylketonuria, Glycogen storage disease, type II or Pompe Disease, Wilson disease (Copper storage in brain and liver), and fragile X syndrome.

"According to statistics, 7 in 100 people have a chance of genetic disorders or may carry genes that can be passed on to their children. The new technology will not only examine the potential risks for children, but also screen perfect embryos of couples who have an infertility problem," Boonsaeng said.

With the new technology, there are a small number of examination stages to screen carriers before a pregnancy - examining abnormal genes in embryo cells before being implanted, in the in-vitro fertilisation process, and examining chromosome abnormalities during pregnancy.

The doctor suggested that couples can be divided into two groups for NGS examination: women aged 35 or over who want children and couples with genetic disorders or who carry genes for disease. He recommends that families with a record of genetic disorders or whose first child was born with a genetic disorder be screened before embarking on a second pregnancy.

Couples with infertility problems can also benefit from NGS. The testing can screen an embryo for genetic disease to ensure that babies are born healthy.

Examination costs to check for genetic disorders range from Bt70,000 to Bt120,000 per couple. The process takes about six weeks.

Source: http://www.nationmultimedia.com/national/Researchers-claim-breakthrough-in-detecting-geneti-30249278.html

-- The Nation 2014-12-07

[englishoak]

Mixed feelings on this one, I see the benefits but paying mean exclusivity and widens the two tier into a whole new realm of those that cant afford it and those that can, before someones even born ? im not cool with that.

[Tatsujin]

Another breakthrough? By Thai's? Really? Guess they don't include in this the "breakthrough's" that have already occurred in this field "outside" of Thailand.

[chooka]

Yea right, same as they discovered the cure and vaccine for ebola.

[BSJ]

Hmmmm, 70k to 120k for the test. I can see somchai and wife with the food cart in the soi coming up with that, not!

[maidee]

a good article would explain what "thalassemia" means, because who knows here on TVF ?

and 70k - 120k, for average thai workers ???????

is it new that people in the west can test for pre birth conditions, i think not ...

[Strangebrew]

I believe There about 20 years behind They can test in the womb if child has a defect and correct it before birth. Now a break through would be if they can test for brain before birth it surely is needed.

[silverhawk_usa]

a good article would explain what "thalassemia" means, because who knows here on TVF ?

and 70k - 120k, for average thai workers ???????

is it new that people in the west can test for pre birth conditions, i think not ...

http://en.wikipedia.org/wiki/Thalassemia

[Alwyn]

They reckon 7% of the population can have genetic disorders or carry bad genes and pass on? Sounds a tadge on the high side? If there are 60,000 thelassemia sufferers in Thailand that's less than 0.1% of the population, I wonder what disorders the other 6.9% are supposed to have?

[Peabody]

They reckon 7% of the population can have genetic disorders or carry bad genes and pass on? Sounds a tadge on the high side? If there are 60,000 thelassemia sufferers in Thailand that's less than 0.1% of the population, I wonder what disorders the other 6.9% are supposed to have?

From what I remember, I think this is about right. Plus, they mention 600 other genetic defects, so that certainly adds to the non-thalassemia group.

I think the key here is that Thailand neither found these genetic defects nor did they develop the screening methods. Their so-called "breakthrough" is in implementing these protocols, some of which have been in use in the west for decades

[Alwyn]

They reckon 7% of the population can have genetic disorders or carry bad genes and pass on? Sounds a tadge on the high side? If there are 60,000 thelassemia sufferers in Thailand that's less than 0.1% of the population, I wonder what disorders the other 6.9% are supposed to have?

From what I remember, I think this is about right. Plus, they mention 600 other genetic defects, so that certainly adds to the non-thalassemia group.

I think the key here is that Thailand neither found these genetic defects nor did they develop the screening methods. Their so-called "breakthrough" is in implementing these protocols, some of which have been in use in the west for decades

Yup, I understand this "break through" is not really a break through, a break through in implementation is good but I still don't buy into the 7% thing. Crikey that means for every 100 people I know 7 have defective genes and for every 1000 people I've trained, 70 have genetic disorders too? As far as I know I don't think I know one person with defective genes, unless migraine counts? Is cancer due to defective genes?

[soalbundy]

Thai parents ?

[cooked]

They couldn't even get the DNA tests for the supposed murderers on Kao Tao right. A global laughing stock and they don't realise it.

sent from phone using bih thumbs

[soalbundy]

They reckon 7% of the population can have genetic disorders or carry bad genes and pass on? Sounds a tadge on the high side? If there are 60,000 thelassemia sufferers in Thailand that's less than 0.1% of the population, I wonder what disorders the other 6.9% are supposed to have?

it's a brain thing.

[Peabody]

They reckon 7% of the population can have genetic disorders or carry bad genes and pass on? Sounds a tadge on the high side? If there are 60,000 thelassemia sufferers in Thailand that's less than 0.1% of the population, I wonder what disorders the other 6.9% are supposed to have?

From what I remember, I think this is about right. Plus, they mention 600 other genetic defects, so that certainly adds to the non-thalassemia group.

I think the key here is that Thailand neither found these genetic defects nor did they develop the screening methods. Their so-called "breakthrough" is in implementing these protocols, some of which have been in use in the west for decades

Yup, I understand this "break through" is not really a break through, a break through in implementation is good but I still don't buy into the 7% thing. Crikey that means for every 100 people I know 7 have defective genes and for every 1000 people I've trained, 70 have genetic disorders too? As far as I know I don't think I know one person with defective genes, unless migraine counts? Is cancer due to defective genes?

Alwyn- many/most of these defective genes are recessive alleles and carried in a single copy (heterozygous) state, with the dominant allele compensating for the defective allele. It is only when the 2 defective, recessive alleles are combined that the condition is expressed. Even then, it is often an effect that is not visible externally.

And most cancers are due to defective genes or the mechanisms that regulate genes, especially those that (the control mechanisms are genetic also).monitor and regulate control points in cell division or the failsafe auto-destruct mechanisms (apoptosis).

[Alwyn]

They reckon 7% of the population can have genetic disorders or carry bad genes and pass on? Sounds a tadge on the high side? If there are 60,000 thelassemia sufferers in Thailand that's less than 0.1% of the population, I wonder what disorders the other 6.9% are supposed to have?

From what I remember, I think this is about right. Plus, they mention 600 other genetic defects, so that certainly adds to the non-thalassemia group.

I think the key here is that Thailand neither found these genetic defects nor did they develop the screening methods. Their so-called "breakthrough" is in implementing these protocols, some of which have been in use in the west for decades

Yup, I understand this "break through" is not really a break through, a break through in implementation is good but I still don't buy into the 7% thing. Crikey that means for every 100 people I know 7 have defective genes and for every 1000 people I've trained, 70 have genetic disorders too? As far as I know I don't think I know one person with defective genes, unless migraine counts? Is cancer due to defective genes?

Alwyn- many/most of these defective genes are recessive alleles and carried in a single copy (heterozygous) state, with the dominant allele compensating for the defective allele. It is only when the 2 defective, recessive alleles are combined that the condition is expressed. Even then, it is often an effect that is not visible externally.

And most cancers are due to defective genes or the mechanisms that regulate genes, especially those that (the control mechanisms are genetic also).monitor and regulate control points in cell division or the failsafe auto-destruct mechanisms (apoptosis).

Interesting, many thanks!

[rickirs]

It appears their breakthrough is that they have learned about next-generation DNA sequencing applications and the associated diagnostic machines. Good to see Thailand medicine enter the 21st century. Keep up the reading research.

Murphy's law of research: Enough research will tend to support your theory.

[Sviss Geez]

Another breakthrough? By Thai's? Really? Guess they don't include in this the "breakthrough's" that have already occurred in this field "outside" of Thailand.

Such as, and by whom?

[Sviss Geez]

a good article would explain what "thalassemia" means, because who knows here on TVF ?

and 70k - 120k, for average thai workers ???????

is it new that people in the west can test for pre birth conditions, i think not ...

"is it new that people in the west can test for pre birth conditions, i think not ..."

As you have admitted that you have no idea what they're talking about, how would you know? You're just another uninformed Thai basher.

[Sviss Geez]

They reckon 7% of the population can have genetic disorders or carry bad genes and pass on? Sounds a tadge on the high side? If there are 60,000 thelassemia sufferers in Thailand that's less than 0.1% of the population, I wonder what disorders the other 6.9% are supposed to have?

From what I remember, I think this is about right. Plus, they mention 600 other genetic defects, so that certainly adds to the non-thalassemia group.

I think the key here is that Thailand neither found these genetic defects nor did they develop the screening methods. Their so-called "breakthrough" is in implementing these protocols, some of which have been in use in the west for decades

Yup, I understand this "break through" is not really a break through, a break through in implementation is good but I still don't buy into the 7% thing. Crikey that means for every 100 people I know 7 have defective genes and for every 1000 people I've trained, 70 have genetic disorders too? As far as I know I don't think I know one person with defective genes, unless migraine counts? Is cancer due to defective genes?

God, you're training people? This is nothing to do with the people you know, it's a figure applied to the population as a whole, not just your friends. But, anyway, how would you know if they did have disorders?

[Sviss Geez]

They couldn't even get the DNA tests for the supposed murderers on Kao Tao right. A global laughing stock and they don't realise it.

sent from phone using bih thumbs

"They couldn't even get the DNA tests for the supposed murderers on Kao Tao right."

How do you know that, are you privy to some information the rest of the world doesn't have? The case hasn't even been heard in court yet. It's not "they" who are the laughing stock when assertions such as yours are made.

[Alwyn]

They reckon 7% of the population can have genetic disorders or carry bad genes and pass on? Sounds a tadge on the high side? If there are 60,000 thelassemia sufferers in Thailand that's less than 0.1% of the population, I wonder what disorders the other 6.9% are supposed to have?

From what I remember, I think this is about right. Plus, they mention 600 other genetic defects, so that certainly adds to the non-thalassemia group.

I think the key here is that Thailand neither found these genetic defects nor did they develop the screening methods. Their so-called "breakthrough" is in implementing these protocols, some of which have been in use in the west for decades

Yup, I understand this "break through" is not really a break through, a break through in implementation is good but I still don't buy into the 7% thing. Crikey that means for every 100 people I know 7 have defective genes and for every 1000 people I've trained, 70 have genetic disorders too? As far as I know I don't think I know one person with defective genes, unless migraine counts? Is cancer due to defective genes?

God, you're training people? This is nothing to do with the people you know, it's a figure applied to the population as a whole, not just your friends. But, anyway, how would you know if they did have disorders?

First thing, my name is not God, it's Alwyn and yes, I've been training people since 1996, civilians, police, military but why do you ask in such a state of shock?Do you think I really thought this was a figure applied only to my friends and nobody else, lucky you're here to point point the error of my ways ay? But anyway, do friends etc not count as part of the population or something? I guess I might know if my friends have disorders, in fact after chatting with another poster - who unlike you had some intelligent comments to make - explained how these disorders can manifest and what they can be and how they work etc.

[noitom]

Another Thai medical research claim. What happened to that Thai claim not long ago that they had discovered the world's first Ebola vaccine? Thai medical research claims occur several times a year and this year still has a few more weeks to go for yet another claim.

[cooked]

They couldn't even get the DNA tests for the supposed murderers on Kao Tao right. A global laughing stock and they don't realise it.

sent from phone using bih thumbs

"They couldn't even get the DNA tests for the supposed murderers on Kao Tao right."

How do you know that, are you privy to some information the rest of the world doesn't have? The case hasn't even been heard in court yet. It's not "they" who are the laughing stock when assertions such as yours are made.

Do try to keep up. They initially claimed that DNA tests proved conclusively that it wasn't an Asian that did it. An Englishman had just fled the island. Ipso facto... case closed.

[cooked]

double post

[kurnell]

I wanna see a Thai breakthrough to cure corruption.

[Tatsujin]

Another breakthrough? By Thai's? Really? Guess they don't include in this the "breakthrough's" that have already occurred in this field "outside" of Thailand.

Such as, and by whom?

Here's a novel idea ... how about using that little thing called a "keyboard" and a wonderful thing called a "search engine" yourself for once.

You know, do a Google search for information/reference like I do before posting on anything.

[Jonmarleesco]

Thais, so-say, had discovered the vaccine for Ebola.. So I'll avoid getting too excited for the moment.