Diagnostic and Clinical Implications of a Targeted NGS panel in Autism Spectrum Disorders

Mana Chandhok:

Hi, everyone. Welcome to this podcast from Cambridge Health-tech Institute for the Molecular Medicine Tri-Conference, which ran this past February, 2017.

We have with us today, Yu Jin Park, a specialist at the Severance Hospital, whose poster Diagnostic and Clinical Implications of a Targeted NGS panel in Autism Spectrum Disorders, won the best poster award at the Molecular Medicine Tri-Conference this year. Yu Jin, thank you for joining us.

Yu Jin Park:

Thank you for calling.

Mana Chandhok

Please describe the research presented in your poster.

Yu Jin Park:

Research on my poster was based on ... Our team has created 100 genes panel for Autistic Spectrum Disorder(ASD) and we are using it on the NGS system and then seeing how many patients that we can actually identify by using our panel. So, we designed our panel by researching through a lot of databases and literature and other commercialize kit for ASD, and then afterwards we screened it on 32 cases. The patients were supplied by our neuropsychologist department at Severance Hospital in Korea. Afterwards we did a lot of analysis and after we confirmed them with the ACMG guidelines we found about 32 cases, 4 CNV cases, and 1 SNV case. So that was about 19% pathogenic or likely pathogenic cases

Mana Chandhok:

What made you get into your field of research?

Yu Jin Park:

First of all the NGS technology has been approved by our government last March, so it's only been a month, a lot of commercialize labs and big hospitals in Korea have been eager to making panels that we can use for clinical use.

A lot of disorders especially with ASD as the name applies has a whole spectrum of disease so it's very hard to link genotypes with genotypes and then it's very limited by the technology that we had before, by sequencing our MLPA to actually correctly get the right gene.

Our professors and a lot of clinicians have been working very hard to make little ingestsuch NGS panels. I've always been fascinated with genetics and a lot of new technology have been applied for the genetics department, including the NGS and other tertiary methods.

I thought it would be a good idea to join the team and what I found interesting was incorporation with the clinicians we actually had a lot of debated talks about what this person would be.

With our research that we had with ASD, the clinicians were actually pretty baffled because the genotypes wasn't that specific for couple patients, but after we found out which genes could be causing them, we search more literature and then the clinicians said, " Oh that might be really it."

It's just not the laboratory work, but afterwards the meetings and trying to find what it is, with the cooperating with the clinicians, that was really interesting and that's how I got into this field.

Mana Chandhok:

Why is your research important or there any future trends in your area?

Yu Jin Park:

Like I said, after last month when the Korean government approved of NGS there have been a lot more panels and our hospital and other labs and have been trying to make more panels suitable for many patients and we didn't know what to do before.

I guess this could lead to unlocking more secrets to previously not well known genetic disease not just the somatic disease but germ line disease that the clinicians and we were baffled about, but I think that it will be a good way to start the diagnosis and then even afterwards with the corporation with pharmacies and other groups it'll be better to find a selective therapy for these patients.

I think this is just a good starting point for geneticist and the clinicians to work together to find the cure or the diagnosis for previously unknown patients.

Mana Chandhok:

What were your favorite talks at the Molecular Medicine Tri-Conference?

Yu Jin Park:

I didn't know much about the circulating tumor cells or cell-free DNAs, but I think everyday had those talks through a lot of them ... Some of them were rudimentary talks that someone like me who didn't have previous knowledge of it could go into it and then just learn about it.

Some of them were really interested in using any specimen such as urine and the blood and then the body fluids and all other aspects that I didn't know so, I guess the CTCs and Self Read cell-free DNAs is going to be a next big thing and finding tumors.

I thought those talks were very interesting, the second talk that I thought was interesting was, because I did undergrad in computer science department have lot of bio-informatics talks and big data sharing and other applications that can be used with the NGS system.

I thought the cloud system was interesting too, just a mix of medical department and computer up-to-date technology, I thought those things were interesting too.

Mana Chandhok:

What attracted you to the Molecular Medicine Tri-Conference this year?

Yu Jin Park:

Because I was fasay fascinated with the NGS when it first came out and I actually did want to go to some kind of NGS conference, either domestic or aboard and Tri-Conference as the name says is a clinical NGS conference, so I thought I could learn a lot from it and I did and it was a lot great talks with many professors from hospitals and labs.

I could probably keep in touch with later afterwards and the place San Francisco was amazing, actually loved it, the weather was permitting and it was a great experience to have. I would love to go back to it.

Mana Chandhok:

Thank you for your time and insights today Yu Jin, that was Yu Jin Park of the Severance Hospital, he was a poster award winner at the Molecular Medicine Tri-Conference, which took place this past February 2017. I'm Mana Chandouk, thank you for listening.