Genomic Enlightenment

A new installation at Medical Museion

“The Enlightenment is man’s emergence from his self-incurred immaturity” (Immanuel Kant).

Genomic EnlightenmentThe 18th century notion of the Enlightenment emphasized the emancipation of human consciousness from ignorance and error, particularly by means of mathematics and the physical sciences.

Today, the biomedical sciences are invested with similar hopes. The elucidation of the human genome and detailed knowledge about the biochemical machinery of the cell promise to emancipate our bodies from our medical ‘immaturity’, our ‘ignorance’ of the effects of unhealthy habits and the ‘errors’ of disease. Swift, accurate and ever cheaper technologies for genotyping and genome sequencing are pivotal for this biomedical latter- day version of the Enlightenment.

This installation symbolizes the notion of a “genomic enlightenment” by displaying Illumina Genotyping BeadChips donated by the Lundbeck Foundation Centre for Applied Faculty of Health Sciences (FACULTY version) Medical Genomics in Personalised Disease Prediction, Prevention and Care (LuCAMP). These chips were used in an ongoing LuCAMP research project in which 17,000 Danish individuals were genotyped in order to identify novel genetic variations that lead to increased risk of common metabolic disorders, such as obesity, type 2 diabetes, and hypertension.

The technology

Silica beads of three microns in size are covered with hundreds of thousands of copies of the same 50-nucleotide long capture sequence. The beads are randomly distributed on silicon wafer slides. Using coupled address sequences the distribution of the capture sequences are mapped prior to use and the exact location of each bead type is thus recorded.

Sample DNA is amplified, fragmented and allowed to hybridize to the chip. The DNA bound to capture sequences act as primers and allow for single-base extension using labeled nucleotides exactly at the SNP site.

Following fluorescent staining of labeled nucleotides, washing and coating, the chips are scanned and an image is produced that coupled with the recorded bead type locations allows for genotyping of the queried SNPs.

Genomic EnlightenmentThe project

The chips were used in an ongoing LuCAMP research project in which 17,000 Danish individuals were genotyped in order to identify novel genetic variations that lead to increased risk of common metabolic disorders, such as obesity, type 2 diabetes, and hypertension.

In the initial stage the entire coding genomes (the exomes) of 1,000 individuals suffering from metabolic disorders and 1,000 healthy control individuals were sequenced. More than 70,000 single-nucleotide polymorphisms (SNPs) with a minor allelic frequency of more than 1% were identified. Of these, approximately 20,000 SNPs were selected for further studies based on most anticipated deleterious effect (e.g. non-sense, missense, etc.) and association between the metabolic and the control group.

In the second stage on which this installation is based customized Illumina iSelect HD arrays were designed to genotype for the 20,000 SNPs identified in the initial stage. Each array allowed for the genotyping of twenty-four samples. As around 17,000 Danish individuals were genotyped, a total of more than 700 chips was used.

Associations between the SNPs and six metabolic traits (T2D, obesity, body-mass index, waist circumference, fasting plasma glucose, and fasting serum insulin) were analyzed and selected for further studies based on a number of criteria:  statistically significant associations (p-value less than 10-3) not in linkage disequilibrium with known SNPs, not present on common GWAS (genome-wide association study) arrays, and with a frequency of more than 0.5%. A total of 52 unique SNPs were selected for further studies.

Genomic Enlightenment has been made by professor Thomas Söderqvist and exhibition designer Mikael Thorsted.

The exhibition opened Thursday 13 October, 2011 and can be seen in Medical Museion’s opening hours.

Read the opening speeches by vice-dean Birthe Høgh, museum director Thomas Söderqvist and associate professor Adam Bencard here.

Building the installation

The video to the right shows the building of the installation.