"Holy Grail" - Benefits of genome sequencing

“Holy Grail” - Benefits of genome sequencing

Question - Latest advancements in the field of genome sequencing have made remarkable difference to healthcare. Discuss the benefits of genome sequencing and the “Holy Grail” of DNA sequencing conducted by Iceland recently.

About Holy Grail

Scientists in Iceland have taken what is a one of its kind snapshot of the genetic makeup of the nation

Benefits of sequencing may be categorised as follows:

Health Benefits

• Sequencing the genomes can provide new information regarding diseases which were previously not understood very well

• Such a DNA sequencing project also has the potential to generate new therapies

• Knowledge about heightened risk for diseases could enable people to be more proactive about their health

• Such sequencing boosts preventative healthcare as it can help patients to visit doctors in a prompt manner and choose medication and diet to boost their optimal functioning

• Genome sequencing also plays a very important role in promoting personalised medicine

Social Benefits

• In conjunction with medical benefits, such sequencing could also lead to new connections between different sets of people

• People with shared genetic variants and mutations can seek support and share their information with each other

About Iceland’s DNA Sequencing

• In a series of papers published in Nature Genetics, researchers at an Icelandic genetic firm called Decode owned by Amgen, described the sequencing of the complete DNA or genomes of 2,636 Icelanders

• This is the largest collection ever analysed in a single human population.

• The massive trove of genetic information collected enabled researchers to infer genomes of more than 100,000 Icelanders which is one third of the entire nation’s population

• This data enabled researchers to assess the mutations to numerous different genes further shedding light on potential treatments for diseases; researchers from Decode identified several such mutations Example: scientists found 8 people in Iceland who shared a mutation on a gene known as MYL4 had early onset atrial fibrillation, which is an irregular heartbeat

• The study discovered interesting associations which indicated it was a “bit of a holy grail” for genetic researchers

• Mutations of hormones stimulating the thyroid gland inherited from the mother lead to overproduction of the hormone and underproduction if inherited from the father, the researchers also found

• Such discoveries could inform new biology, according to researchers

• Icelandic researchers also found a rare mutation to a gene termed ABDB4 raising the risk for gallstones and a gene called ABCA7 associated with increased chances of getting Alzheimer’s disease

• Scientists in the field of genetic research have been looking for “human knockouts” or people carrying mutations who do not have a working copy of a particular gene

• The Decode study found 8% of the Icelanders were human knockouts and the researchers found 1,171 genes shut down in the Icelandic knockouts

• Decode researchers now have full genomes from around 10,000 people living in Iceland and partial genetic information on 150,000 more persons in this nation

• Through a technique called imputation, they can ascertain the genomes of people who have not even been examined

• Scientists can discover who is at risk for diseases such as cancer

Facts and Stats

• Iceland is the perfect nation for genetic research because it was founded by a small group of settlers racing Europe 1,100 years ago

• Around 8,000 to 20,000 people came to Iceland from Ireland, Scotland and Scandinavia

• As the country remained isolated for a 1000 years, Icelanders have comparatively low level of genetic diversity and it is easier to detect genetic variants that increase chances of developing a particular disease

• Iceland also has impressive genealogical records

• Decode was founded by Dr. Stefansson in 1996 to establish the genetic landscape of Iceland

In 2012, Amgen bought Decode and the company is looking to investigate genes associated with disorders and diseases in Iceland