Monthly Archives: June 2015

The exome: From the study of the symptoms to mutations of genes

In this post we discuss about the wide application of exome sequencing in the clinical sector.

Exome is responsible for much of the final performance of our body. The exons contain  important information which, when it is decoded,
it determines the development of tissues, organs and finally, living organisms.

Exome

Therefore, the whole exome sequencing is becoming vital for the diagnosis of diseases. Thus, it allows to find precisely the genetic
causes of diseases and disabilities.

Now, it is already possible to obtain an accurate diagnosis, with the possibility of offering adequate treatment.

In this post we show the illness of Vincent Pieterse, a child for which the exome sequencing was decisive.

Although Vincent was born completely healthy, certain symptoms of autism began to manifest when he was age 8, as well as lack
of muscle mass, extra teeth and an enormous elasticity in the skin.  However, conventional genetic studies and investigations of neurological
diseases were not able to clarify the problem. The child did not have a family history of these symptoms.

Vincent had a disease that did not coincide with the typical symptoms of DBA, a kind of anemia known as Blackfan-Diamond anemia.

Exome sequencing of Vincent and his father Marc, allowed to find a mutation in the genes of the boy. This mutation had not been
associated so far with the DBA. The discovery would not have been possible without the conviction of the parent as to the disease of Vincent.

Fortunately, Marc could contact with other researchers who were interested in his disease. In addition, they put at the disposal of the family
all the technology and knowledge needed to carry out the analysis of the exome sequencing.

Today, the exome sequencing has become a main tool in the process of diagnosis in genetic diseases, although a few years ago it was
used only as proof of disease.

In this way, it has reversed the order of performance, at least in some centres.  Now, rather than making the exome study in last place,
it has become the starting point from which to determine the disease that affects the patient.

No doubt, the success of Vincent will no longer be news and it will only become a positive result from an analysis widely popularized in the
clinical sector.

Bioarray has a team of specialists in clinical and research exome sequencing.

Contact us.

Do we want to know what’s in our DNA?

The European Journal of Human Genetics has published the results of the world’s largest survey of public attitudes towards genomic data. The advancement of high profile, large scale sequencing projects has created a discussion around the reporting of incidental findings. We refer to the detection of alterations that can be classified as pathological but being in genes that are unrelated to the pathology for which the test is indicated and which have not developed symptoms.

Decipherings Developmental Disorders project from the Wellcome Trust’s Sanger Institute was carrying out the survey with approximately 7000 participants.98% stated they wanted to be informed if a research came across incidental findings.

Dr. Ann Middleton from Wellcome Trust Sanger Institute referred to these results: “the advance of fast, genetic efficient sequencing has transformed medical research over the past decade and it’s set to revolutionise clinical care in the future.” Dr. added: “policy surrounding genetic data in researches must be directed by the views and experiences of the public, patients, clinicians, genetic health professionals and genomic researchers.”

In the case of being at risk for a serious condition, we usually want to know that risk from the very beginning, even if that risk is low. Detecting conditions early can be very important, that’s why patients demand to be informed as soon as possible.

The director of Genetic Alliance Uk, Alastair Kent, also referred to the results of the survey: “When we asked patients how much they want to know about their genetic information, they immediately responded that whatever information the researchers found out, they wanted to know too. He also added that “we need to remember this information belongs to the patient, and we need to make sure there is enough information and support available to allow patients make an informed choice about what is right in every scenario.”

The survey shows another interesting result: genetic healthcare professionals were five times more likely to think that incidental findings should not be shared.

Dr Helen Firth from the Department of Clinical Genetics at Addenbrooke’s hospital explained this fact: Genetic health professionals are aware of the challenges posed by interpreting genetic information accurately and communicate results to patients. There are still many unknowns. Having key indicators for a disease in your genetic code may not necessarily mean that you are going to develop that disease.”

The release of the results is an important step in this discussion. It eliminates the reliance based on assumptions. With genomics everyday closer of a major integration into healthcare, there is a lot to be discussed. Genetic counselors will have an increasingly role to play in the process and will need to be given plenty of consideration in many of these discussions.

Source

Bioarray at ESHRE 2015

14-17 June 2015, Lisbon, Portugal

ESHRE 2015

Bioarray will participate at ESHRE 2015 this key event for Human Reproduction professionals: physicians, ob-gyns, clinical embryologists, nurses, laboratory
technicians, psychologists, and scientists. We will share the latest advances on Reproductive Genetics, an essential area for Bioarray where its
expertise on molecular technologies is applied.

Following our presence at the main international events on the topic, we will be pleased to meet you at ESHRE, booth C56. Plus we will present
a scientific work describing the exhaustive validation of Bioarray’s PGS using NGS with the ion torrent platform: A 24-chromosome aneuploidy
detection of 100 embryos in PGS by means of NGS.

Please check out abstract here and sign up for our free pre-congress webinars on PGD using NGS!