15 Genomic Advances
After The Human Genome Project
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1
DNA Sequencing: Reducing the cost of genome sequencing by a million-fold.
Did you know… that your genome contains about six billion individual building blocks – and that we can now read the order of all those building blocks in about a day and for about $1000?
Leaps in technology since the Human Genome Project have enabled remarkable genomics-based advances in medicine, agriculture, forensics, and our understanding of evolution.
2
Human Genomic Variation: Understanding what makes us different and what makes us the same.
Did you know… that at the base-pair level your genome is 99.9% the same as all of the humans around you – but in that 0.1% difference are many of the things that make you unique?
We have learned that people’s genomes differ from each other in all sorts of ways. Those differences in your DNA help to determine what you look like and what your risk might be for various diseases. But your genome doesn’t entirely define you.
3
Cancer Genomics: Transforming how we study, diagnose, and treat cancer.
Did you know... that we are increasingly able to detect cancers by testing just a blood sample? Or that we are moving toward treating cancers not by where they are found in the body, but by how their genomes have changed?
Cancer is caused by changes in your genome, but advances in DNA sequencing technology are leading to a new understanding of cancer and new ways for diagnosing and treating many types of cancer.
4
Human Origins and Ancestry: Illuminating human and family origins at the genomic level.
Did you know... that your genome helps uncover the history of your ancestors, both near and distant?
Advances since the Human Genome Project allow us to compare genome sequences among humans, living and long-deceased, and to trace our collective ancestral history.
5
Agriculture: Empowering farmers to improve the food supply.
Did you know... that in agriculture, genomics enables farmers to accelerate and improve plant and animal breeding practices that have been in use for thousands of years?
The ability to read genome sequences coupled with technologies that introduce new genes or gene changes allows us to speed up the process of selecting desirable traits in plants and animals.
6
Genomes at Work: Learning how genomes serve as blueprints for life.
Did you know... that just knowing the genome sequence of an organism only reveals part of the story – and that it is also important to determine how that organism interprets its genome and uses that information to build and operate itself accordingly?
Less than 2% of the human genome corresponds to “genes,” but we know other parts are important for regulating and translating the genome as well as responding to environmental influences. Even still, the job of large parts of the genome remains a bit of a mystery!
7
Rare Genetic Diseases: Ending diagnostic odysseys for patients with rare diseases.
Did you know... that there are truly rare people born all the time?
Around 350 million people on earth are living with rare disorders – this is defined in the United States as a disorder or condition with fewer than 200,000 diagnosed people. About 80% of these rare disorders are genetic in origin, and 95% of them do not have a treatment approved by the U.S. Food and Drug Administration (FDA).
8
Pharmacogenomics: Choosing the right medication at the right dose for each patient.
Did you know... that the sequence of your genome can determine how you respond to certain medications?
Understanding pharmacogenomics, or tailoring a person’s medications based on their genome, would not be possible without sequencing the genomes of many people and comparing their responses to medicines.
9
Noninvasive Prenatal Genetic Testing : Revolutionizing health assessments before birth.
Did you know... that DNA sequencing now allows us to test for specific genomic variants during pregnancy using a small sample of a pregnant mother’s blood?
Pregnancy can be a stressful time, and for many years prenatal genetic testing has required invasive procedures with associated risk. New DNA sequencing technologies have now truly revolutionized the field.
10
Enhanced Forensics: Establishing more robust methods for DNA-based forensic analyses.
Did you know... that forensic analyses of DNA were being used well before the completion of the Human Genome Project, but newer approaches are speeding up and greatly improving the process, and larger DNA databases are making searches more powerful and more widely available?
The National DNA Index in the United States now contains information from over 16 million people, and has been used to aid in over 387,000 investigations.
11
Microbes and Microbiomes: Advancing the study of individual and communities of microbes.
Did you know... that your body contains many more microbes (including bacteria and viruses) than human cells? And, even though some microbes can cause dangerous infections, you can’t live without others?
Viral and bacterial genomes might be small, but they are packed with information and some surprises about evolution and human health.
12
Direct-to-Consumer Genomic Testing: Accessing information about your genome from your home.
Did you know… that anyone can buy a test that will read specific places in their DNA and provide them with information about their genome?
Advances in genomics since the Human Genome Project have led to an explosion in at-home, or “direct to consumer” genomic testing. You can even seek genomic information without involving a healthcare provider in ordering the test or delivering the results. What are the pros and cons?
13
The Natural World: Understanding evolution and protecting our biological ecosystems.
Did you know... that the new methods for DNA sequencing have been used to read the genomes of tens of thousands of organisms, some alive and some extinct, allowing us to redefine the “tree of life?”
Darwin could never have imagined the full complexity of the tree of life, but genomic technologies have been used to illuminate the natural world in amazing ways. We are all connected to every living thing on earth, from plants to animals to microbes, through our genomes.
14
Genome Editing: Altering a genome with unparalleled efficiency and precision.
Did you know... that in the 15 years since we finished reading the human genome sequence for the first time, we have developed powerful new technologies for editing the human (or any) genomes?
We may not yet have jet packs or flying cars, but the ability to edit genomes precisely is now real. These new methods offer the ability to change the genome in a way that could be passed on for generations. But should we?
15
Social Context: Fostering an appreciation for what our DNA means for our health, our identities, and our culture.
Do you know… what the slogan “it’s in your DNA” is really all about?
Our ever-improving ability to read anyone’s genome sequence raises many issues regarding the social context of genomics. Genomic information and societal messages work together to influence how we think about ourselves and how others view us.