Lab Stories

The people, labs and tools behind every test.

Every diagnosis, food-safety check and biosimilar release depends on a lab, and on inventions that were once somebody's bright idea. Here are the stories behind the methods we run every day, the genomics labs that shaped the field, and the lab professionals who quietly keep healthcare working.

Fact of the moment
Genomics hall of fame
Why labs matter

Lab facts worth sharing

Small facts about a big, mostly invisible part of healthcare.

Healthcare

A widely quoted estimate says about 70% of medical decisions depend on laboratory results. The exact figure is debated, but diagnosis, treatment choice and follow-up all lean heavily on the lab.

Lab professionals

Most patients never meet the scientists who run their tests. Medical laboratory professionals work behind the scenes, and every April, Medical Laboratory Professionals Week ('Lab Week') is set aside to recognise them.

Lab professionals

A single lab report passes through many hands: sample reception, extraction, the assay, instrument QC, data analysis and a final sign-out by a qualified reviewer.

Quality

Clinical labs check themselves constantly. Control samples run alongside patient samples, and external proficiency schemes send blind samples so a lab can prove it gets the right answer.

History

Every blood transfusion depends on a lab discovery. Karl Landsteiner described the A, B and O blood groups in 1901 and won the 1930 Nobel Prize in Physiology or Medicine for it.

History

In the early 1960s microbiologist Robert Guthrie developed a blood-spot test for phenylketonuria. The heel-prick 'Guthrie card' became the basis of newborn screening around the world.

History

The Pap smear, developed by George Papanicolaou, led to large falls in cervical-cancer deaths wherever routine screening was introduced. A glass slide and a trained eye changed public health.

History

Antonie van Leeuwenhoek was the first person to describe bacteria, which he called 'animalcules', in the 1670s. He saw them through single-lens microscopes he made himself.

History

Hans Christian Gram devised his staining method in 1884. More than 140 years later, the Gram stain is still one of the first tests run on a bacterial culture.

Genomics

Stretched end to end, the DNA in one human cell would measure about 2 metres. It fits inside a nucleus only a few micrometres across.

Genomics

Any two people share about 99.9% of their DNA sequence. The remaining 0.1% is a few million positions, and that is where genetic testing looks for answers.

Genomics

The Human Genome Project ran from 1990 to 2003 and cost about US$2.7 billion. Today a whole human genome can be sequenced in a day or two for a few hundred dollars.

Genomics

In 1953 James Watson and Francis Crick described the DNA double helix. Their model drew on X-ray images made by Rosalind Franklin and Raymond Gosling, including the famous 'Photo 51'.

Genomics

Frederick Sanger is one of very few people to win two Nobel Prizes: in 1958 for sequencing the protein insulin, and in 1980 for his method of sequencing DNA.

PCR

Each PCR cycle roughly doubles the target, so about 30 cycles turn one DNA copy into around a billion. That is why PCR can find a pathogen in a tiny swab.

AMR

Bacterial antimicrobial resistance directly caused an estimated 1.27 million deaths worldwide in 2019 (The Lancet, 2022). Lab testing is how resistance gets detected, tracked and treated with the right drug.

Pakistan

Pakistan carries one of the world's highest burdens of beta-thalassaemia, with roughly 5–7% of people carrying the trait. Carrier screening and prenatal molecular testing help families make informed choices.

Precision medicine

Finding a BRCA1 or BRCA2 variant can change a cancer patient's treatment. Tumours with these variants can respond to PARP inhibitors, so one lab result can open a whole treatment option.

The tools behind the tests

Who invented the methods we use every day

From the humble micropipette to billion-read sequencers, in the order they were invented, with a note on where each one shows up at NCRO.

1937

Gel electrophoresis

Arne Tiselius, Uppsala University (Nobel Prize 1948)

Tiselius used an electric field to separate serum proteins by charge. Agarose gels for DNA followed in the 1970s, and fragments still line up by size just as he showed.

At NCRO: DNA quality checks and every conventional PCR result.
1957

The micropipette

Heinrich Schnitger, University of Marburg

Tired of mouth-pipetting tiny volumes, Schnitger built a piston-driven pipette with a disposable tip. Eppendorf began selling it in 1961, and it is now the most-used tool in any molecular lab.

At NCRO: Every assay we run starts here.
1970

Needleman–Wunsch alignment

Saul Needleman & Christian Wunsch

The first dynamic-programming method for aligning two biological sequences. It guarantees the best-scoring global alignment and taught bioinformatics how to compare genes.

At NCRO: The engine inside our Sequence Aligner tool.
1971

ELISA

Eva Engvall & Peter Perlmann (Stockholm); independently Anton Schuurs & Bauke van Weemen (Netherlands)

Replacing radioactive labels with an enzyme that produces a colour change made immunoassays safe, cheap and easy to automate. Two teams arrived at it in the same year.

At NCRO: ELISA and immunoassay testing.
1975

Monoclonal antibodies

Georges Köhler & César Milstein, MRC LMB Cambridge (Nobel Prize 1984)

Fusing an antibody-making cell with a myeloma cell produced a 'hybridoma' that makes one identical antibody indefinitely. Today's biologic drugs trace back to it.

At NCRO: Cell-based potency assays for biologics and biosimilars.
1977

Sanger sequencing

Frederick Sanger, MRC LMB Cambridge (Nobel Prize 1980)

Chain-terminating dideoxy nucleotides stop DNA copying at each base, and the fragment lengths spell out the sequence. Nearly 50 years on, it is still the accuracy benchmark for confirming variants.

At NCRO: Exon-level variant confirmation, 16S and ITS identification.
1977

16S rRNA phylogenetics

Carl Woese & George Fox, University of Illinois

By comparing 16S ribosomal RNA, Woese found a whole third domain of life, the Archaea. The same gene is now the standard way to identify bacteria.

At NCRO: 16S genotyping and microbiome/metagenomics.
1983

PCR

Kary Mullis, Cetus Corporation (Nobel Prize 1993)

Mullis came up with PCR during a night drive in California. It became practical with Taq polymerase, a heat-stable enzyme from Thermus aquaticus, a bacterium found in Yellowstone's hot springs.

At NCRO: Conventional, multiplex and long-range PCR. Our Gene Panel Designer designs the primers.
1986

Automated fluorescent sequencing

Leroy Hood, Lloyd Smith and colleagues, Caltech

Four coloured dyes replaced radioactive labels, so a machine could read the sequence. Its capillary descendants did most of the work on the Human Genome Project.

At NCRO: Our Sanger runs use capillary instruments descended from this design.
1989

ARMS-PCR

C. R. Newton and colleagues, ICI Diagnostics, UK

A primer whose 3′ end matches only one allele will only amplify that allele. It is a fast, inexpensive way to genotype a known mutation without sequencing.

At NCRO: Allele-specific and tetra-primer assays (ARMS tab of the Gene Panel Designer).
1990

BLAST

Altschul, Gish, Miller, Myers & Lipman, NCBI

A fast way to search one sequence against every known sequence. The original paper is one of the most cited in all of science.

At NCRO: Species-ID reports and primer specificity checks.
1991

TaqMan & real-time qPCR

Pamela Holland and colleagues (1991); Russell Higuchi's group (1992–93), Cetus/Roche

Holland showed that Taq's 5′-nuclease activity could cut a labelled probe during PCR. Higuchi's team then watched amplification happen live, and real-time qPCR was born.

At NCRO: Pathogen, gene-expression and AMR panels. Our Species ID designer builds TaqMan probes.
1998

Primer3

Steve Rozen & Helen Skaletsky, Whitehead Institute

Free, open primer-design software that became a standard. NCBI's Primer-BLAST is built on it.

At NCRO: We check designed primers against it and Primer-BLAST.
1998

Illumina sequencing-by-synthesis

Shankar Balasubramanian & David Klenerman, University of Cambridge (Solexa)

Reversible-terminator chemistry reads millions of DNA clusters at the same time. Illumina bought Solexa in 2007, and the method now produces most of the world's sequencing data.

At NCRO: WGS, WES, RNA-seq and panels on partner NovaSeq X runs.
2003

DNA barcoding (COI)

Paul Hebert, University of Guelph

Hebert proposed a short stretch of the mitochondrial COI gene as a 'barcode' for animal species. It is now the basis of meat and seafood authentication.

At NCRO: Species ID and adulteration testing (Species ID PCR Designer).
2003

High-resolution melting (HRM)

Carl Wittwer and colleagues, University of Utah

Saturating DNA dyes and precise melt curves reveal single-base differences in a closed tube, with no sequencing needed.

At NCRO: HRM genotyping and mutation scanning (HRM tab of the Gene Panel Designer).
2010

DNA nanoball sequencing

Radoje Drmanac and colleagues, Complete Genomics

Rolling-circle copies of each DNA fragment are packed as 'nanoballs' onto a patterned chip. BGI acquired Complete Genomics in 2013 and built the DNBSEQ platforms on the method.

At NCRO: Partner DNBSEQ-T7 runs for high-throughput sequencing.
Famous genomics labs

The labs, and the people who founded them

The institutes that sequenced the human genome, built the databases every lab searches and invented the instruments we still use.

CSHL

Cold Spring Harbor Laboratory

New York, USA · founded 1890
Founders & early leadersBegan as a summer biology school of the Brooklyn Institute of Arts and Sciences. James D. Watson led it from 1968 and built it into a centre for molecular biology and cancer research.
Known forIts summer courses have trained generations of molecular biologists, starting with the famous bacteriophage course of 1945.
Barbara McClintock discovered 'jumping genes' (transposons) here, work that won her the 1983 Nobel Prize.
LMB

MRC Laboratory of Molecular Biology

Cambridge, UK · founded 1962
Founders & early leadersBuilt around the unit Max Perutz started in 1947. Perutz chaired it, and Francis Crick, John Kendrew, Fred Sanger and Aaron Klug were early leaders.
Known forBirthplace of Sanger sequencing and monoclonal antibodies, and home to a long list of Nobel Prizes.
Two tools NCRO uses every week, Sanger sequencing and monoclonal antibodies, both came out of this one building.
WI

Whitehead Institute

Cambridge, Massachusetts, USA · founded 1982
Founders & early leadersFounded by industrialist Edwin C. 'Jack' Whitehead, with Nobel laureate David Baltimore as founding director.
Known forIts Center for Genome Research was one of the largest contributors to the Human Genome Project.
Primer3, the primer-design software used by labs worldwide, was written here.
NCBI

National Center for Biotechnology Information (NCBI)

Bethesda, Maryland, USA · founded 1988
Founders & early leadersCreated by the US Congress within the National Library of Medicine. David Lipman was founding director and co-authored BLAST.
Known forRuns GenBank, BLAST, PubMed and Primer-BLAST, free resources nearly every genomics lab uses daily.
GenBank's public archive of DNA sequences has roughly doubled in size every couple of years since the 1980s.
JCVI

The Institute for Genomic Research / J. Craig Venter Institute

Maryland & California, USA · founded 1992
Founders & early leadersFounded by J. Craig Venter as TIGR in 1992. It was merged into the J. Craig Venter Institute in 2006.
Known forIn 1995 TIGR published the first complete genome of a free-living organism, the bacterium Haemophilus influenzae.
In 2010 the team announced a bacterial cell running on a chemically synthesised genome.
WSI

Wellcome Sanger Institute

Hinxton, UK · founded 1993
Founders & early leadersFounded with Wellcome funding under John Sulston, its first director and a 2002 Nobel laureate. It is named after Frederick Sanger.
Known forProduced about a third of the Human Genome Project's reference sequence, and still leads cancer and pathogen genomics.
Sulston pushed hard for the human genome to stay free for everyone, not patented.
NIBGE

National Institute for Biotechnology and Genetic Engineering (NIBGE)

Faisalabad, Pakistan · founded 1994
Founders & early leadersEstablished by the Pakistan Atomic Energy Commission, with Dr. Kauser Abdulla Malik as founding director.
Known forOne of Pakistan's leading biotechnology institutes, working across agricultural, health and environmental biotechnology.
It is a reminder that world-class molecular biology is being done right here in Pakistan.
ILMN

Illumina

San Diego, California, USA · founded 1998
Founders & early leadersFounded by David Walt, whose bead-array technology came from Tufts University, with Larry Bock, John Stuelpnagel, Anthony Czarnik and Mark Chee.
Known forIts sequencing-by-synthesis platforms, gained by buying Solexa in 2007, produce most of the world's DNA sequence data.
The chemistry began in a Cambridge University lab where two chemists wanted to watch single DNA molecules being copied.
BGI

BGI

Shenzhen, China · founded 1999
Founders & early leadersFounded in Beijing by Wang Jian, Yang Huanming, Yu Jun and Liu Siqi.
Known forTook on 1% of the Human Genome Project, then grew into one of the world's largest sequencing organisations with its own DNBSEQ instruments.
Its early projects included the rice genome and rapid sequencing of the SARS coronavirus in 2003.
BROAD

Broad Institute of MIT and Harvard

Cambridge, Massachusetts, USA · founded 2004
Founders & early leadersFounded with philanthropists Eli and Edythe Broad, with Eric Lander as founding director.
Known forGenomics at massive scale, and the GATK variant-calling software used in genome pipelines worldwide.
GATK best-practice pipelines sit behind a large share of the variant calls made in research labs today.
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