Genome sequencing: unlocking a world of possibilities

Genome sequencing is the focus of the discussion “Science with and for society,” which being held as part of this year’s Long Night of the Sciences. It is a technique that in recent years has brought about considerable changes in medicine, particularly for prenatal diagnosis and treatment.

Many expecting parents worry that their unborn child may have a genetic disorder. These concerns often lead pregnant women to undergo a prenatal screening test to find out, for example, if their baby has trisomy 21. Up until just a few years ago, this test involved taking a sample of placental tissue or amniotic fluid, which was not a completely risk-free procedure for the fetus. Today, a simple blood test from the mother is enough for fetal DNA sequences to be obtained and analyzed. This method of prenatal diagnosis allows potentially serious genetic variations in the unborn child such as trisomy 21 – or the more severe trisomies 13 and 18 – to be identified with greater accuracy, virtually without any side effects, and six weeks earlier than with a classic amniocentesis.

But is such knowledge always a blessing? Do the possibilities created by modern medicine not also put increasing pressure on our society – for example, by confronting us with the specter of eugenics? These are the sorts of questions that will be addressed at the panel discussion on genome analysis entitled “Science with and for society,” taking place at the Berlin-Buch campus as part of the Long Night of the Sciences. “We want to provide an overview of the possibilities provided by genome sequencing methods – and discuss these possibilities with the public,” says MDC researcher Emanuel Wyler, one of the event’s panel members. Wyler is a scientist working in Markus Landthaler’s research group, where high-throughput methods and genome sequencing are the focus of much of the research conducted.

MDC does not conduct any tests itself, but the knowledge gained from its basic research naturally has an impact on applied medicine – particularly in prenatal diagnosis, but also in oncology, where genetic analysis allows for much more detailed insight and more targeted chemotherapy. “The possibilities provided by ultrasound and genome sequencing are very different,” says Wyler. “Ultrasound is like viewing the unborn child through a pane of frosted glass, while a genetic analysis is almost like taking an X-ray of the embryo with microscopic definition.” He also explains that, with in vitro fertilization procedures, the preimplantation genetic diagnosis allows the genome to be analyzed at a time when it is only made up of 16 or 32 cells – that is, before it is implanted in the uterus. Even at this very early stage of development, today’s testing methods can reveal whether the child would be at risk of developing certain terminal illnesses.

The Long Night of Sciences at the Campus in Berlin-Buch

Science with and for society,” June 24, 2017 at 7 p.m. in the MDC’s C-Foyer. 

Featured image: Illustration by Ernesto del Aguila III, NHGRI. License: CC BY-NC 2.0