Individual genomic sequencing is a fast-growing area of technology and medicine. As expected, significant progress in recent years in sequencing may soon lead to a reduction in the cost of sequencing to $50 per individual genome. In addition to personal full-genome sequencing, advances in the study of single-nucleotide polymorphism (SNP) allowed the genotyping of most variations in individual genomes.
In the near future, patients will be able to bring information about their own genome so that the doctor can assess the risks of diseases and adjust the treatment strategy accordingly. There will be clinics that can offer services based on the truly individual characteristics of the organism. Knowledge of these features will allow a doctor to quickly and more accurately diagnose, prescribe the target and the most effective therapy, and give specific recommendations for early prevention of illness.
The most rapid introduction of new technologies can be expected in the most studied and funded area – the treatment and study of tumor diseases. New Generation Sequencing (NGS) is also important in medical genetics and in the prevention of multifactorial diseases. While NGS remains expensive, the services offered by personalized medicine are based on an analysis of large, but limited sections of the human genome.
In this case, it is already possible to analyze couples for carrying of several hundred mutations, characteristic of the development of more than 100 severe hereditary diseases. Such an analysis of future parents allows fertility specialists to assess the risk of having a child with pathology and, in the event of a serious threat, choose an in vitro fertilization procedure with selection of a healthy embryo or, in some cases, prepare and start a therapy from the moment of birth that will allow an absolutely healthy child to develop.
Also, there is an active work on decoding and determining de novo mutations of haploid germ cells. Thus, in July 2015, a publication was published that a genetic set of sperm cells was sequenced, and this made it possible to establish the frequency of mutations in male sperm cells. Subsequently, an international group of scientists was able to accurately predict the gene set of the egg nucleus by sequencing the genes of the polar bodies.
Such an analysis will primarily help weed out the germ cells bearing the characteristics that adversely affect the onset of pregnancy and gestation due to the female factor. The scientists are expanding the possibilities of such a study so that in the future it is possible to create “designed children”, i.e. selection of germ cells with exceptionally desirable characteristics that parents choose. For practical medicine, this step means that it is possible to select eggs in case of severe genetic diseases, and the future screenings will “cleanse” the human genotype. Also, this approach makes it possible to donate germ cells, taking into account the most common ethnic genetic diseases inherent in certain nations, which greatly facilitates the search for a phenotypically suitable donor and increases the quantitative availability of donor material.
Perhaps the most common test based on genomic sequencing (not necessarily the full genomic) is currently a non-invasive prenatal test for the presence of chromosomal abnormalities in the fetus. This analysis can be carried out starting from the 10th week of pregnancy, taking only a sample of the mother’s blood and not creating a risk for the pregnancy, therefore it is called non-invasive. There are about 5% of fetal DNA in the mother’s blood, which can be analyzed for the presence of an extra chromosome using sequencing and complex mathematical processing of the results. This test has successfully passed not only clinical studies, but has also been successfully performed for several tens of thousands of pregnant women all over the world.
Devices that perform the new generation sequencing (NGS) use the technology of “sequencing-by-synthesis” (SBS). One of the applied technologies in the equipment of this kind is the detection of signals of hydrogen ions (H+), which appear during the operation of DNA polymerase in the process of nucleotide incorporation. In essence, such a device is a very sensitive pH meter. Each chip that is used for research contains millions ion-sensitive field-effect transistor (ISFET) sensors that allow parallel detection of multiple sequencing reactions. The technology of “sequencing-by-synthesis” allows a reproductive specialist to get longer DNA sequences, unlike other technologies. The advantages of semiconductor technology are: the relatively low cost of producing instruments, chips and reagents and a fast sequencing process.
In general, hundreds of genome, exome and transcriptome samples are sequenced every day in the world. These data are accumulated and analyzed by dozens of research teams and form the basis of new diagnostic methods. The era of personalized medicine has already arrived and the day is not far when the analysis, for example, of a transcriptome will be a routine procedure. This direction gives hope to thousands of people with severe pathologies in finding the most appropriate and effective treatment and prevention method that will improve their quality of life.
Pre-implantation genetic screening using NGS considerably improves pregnancy outcomes versus PGS using aCGH in STEET cycles. Next-generation sequencing has the ability to identify and screen for embryos with reduced viability. Pregnancy outcomes with NGS may be improved due to the exclusion of these abnormal embryos.
The Network of Reproductive Medical Centers (ISO 9001:2015 certified) “Mother and Child” that employs the highly renowned reproductive embryologists and long-standing members of the European Society of Human Reproduction and Embryology (ESHRE) and the American Society for Reproductive Medicine (ASRM) has been successfully involved for over eleven years in practical application of assisted reproductive technologies (ART) and various types of surrogacy programs at affordable cost using the Next Generation Sequencing (NGS) technology that resulted in birth of 9,074 healthy children and helped thousands of people throughout the world to find the happiness of parenthood.
Please contact IVF Group Surrogacy Services at +1(213) 277-5874 or visit our website at ivf-international.com to find out more or to schedule a consultation with a reproductive embryologist.