How can we sum up the United States of America in just a few short sentences? One of the largest and most diverse countries in the world, the USA is home to a massive variety of people, cultures and languages. The home of Hollywood films and the nation responsible for the first moon landing, it’s hard to pin down just one defining element of this vast country.
The genomics and healthcare landscape of the USA is just as huge and diverse as the country itself. Not without criticism, but arguably advancing the field of genomics more than any other nation, the USA hosts multiple internationally renowned research centres, many notable genomics projects and influential individuals. In the early 2000s the USA was responsible for over a third of worldwide public funding for genomics research. In this World of Genomics, we take a look at what the USA has to offer.
Population
Christopher Columbus’ famous voyage across the Atlantic Ocean is often credited with the “discovery” of the Americas. Though this may have been the first introduction of European travellers to the region, the land was in fact already occupied up to 35,000 years earlier by immigrants from across the Bering Strait. Colonisation of the area by the British led to the American Revolution in the latter part of the 18th century, and the modern United States of America was founded on 4th July 1776. Independence Day is still celebrated every 4th July in the USA.
One of the most diverse countries in the world, the USA is often described as a melting pot of cultures. However, it is vital to remember where some of this diversity originates from. Many people of African descent reside in the country because of the slave trade, which saw their ancestors forcibly taken in ships from their homes to what would become the USA.
In the 19th and 20th centuries, the USA was largely seen as a land of hope and opportunity, and immigration soared with people from all over the world hoping for a new life there. Today, significant immigration occurs from South America and Mexico, contributing to a large Hispanic community.
The contiguous USA comprises 48 states and borders Canada to the north and Mexico in the south. Two more states – Hawaii and Alaska – are situated in the Pacific Ocean and west of Canada, respectively.
Geographic and Demographic Information:
Summary statistics
- Land area: 9,833,520 km2
- Gross domestic product (GDP):
- Total: $23 trillion (2021)
- Per capita: $69,287.5 (2021)
Population statistics
- Population size: 331.9 million (2021)
- Birth rate: 11 per 1000 (2020)
- Death rate: 10 per 1000 (2020)
- Infant mortality rate: 5 in 1000 (2020)
- Average life expectancy: 77 (2020)
- Male: 75 (2020)
- Female: 80 (2020)
- Ethnicity: 60.1% non-Hispanic White, 18.5% Hispanic, 13.4% non-Hispanic Black, 6.1% Asian and Pacific Islanders, 1.3% Native American and 0.6% other.
Healthcare System
The USA spends the most per capita on healthcare in the world, but the system is often criticised by both Americans and those outside of the country. Healthcare in the USA is provided primarily through private insurance which can often be costly and, in many cases, does not cover every need. Around 56% of Americans are covered by some form of private insurance policy. These insurance policies are often linked to employment and include cover for immediate family members, but many jobs do not include this type of benefit and those who are self-employed must pay out-of-pocket. Even with insurance coverage, individuals often pay high premiums for any care they receive.
There are publicly funded healthcare policies for vulnerable groups. For example Medicare, which is a system funded at the federal level via taxes. This provides healthcare for those over 65 and younger people with certain disabilities such as end stage renal disease. Those who paid Medicare taxes during their employment are eligible to receive some care such as hospital stays for free. For most other treatments, monthly payment is still required, although this is lower than that of many other insurance policies.
Medicaid is a similar program which exists for those in vulnerable groups with low income. Medicaid is funded at both the federal and state level, and as a consequence care can vary between states. Strict eligibility criteria means that many with low incomes are still ineligible for care via this system. Around 9% of Americans are not covered by either private or public insurance, equating to over 27 million individuals.
In 2010, the Affordable Care Act (ACA, informally referred to as Obamacare) was passed. This expanded Medicaid eligibility by increasing the income threshold. However, the decision to expand this criterion was state-specific and many on low incomes did not benefit from the changes. The new law also aimed to decrease the price of medical procedures, although the USA today remains known for using far more expensive treatments than other comparable high-income nations.
Despite the high expenditure on health in the USA, the nation has the lowest life expectancy of all Organisation for Economic Co-operation and Development (OECD) countries. There is a significant number of excess deaths and a large number of hospital stays attributed to preventable causes. This is due in part to the lack of access to care for the uninsured and the large premiums incurred even by those with coverage. The country also has fewer physicians than other high-income countries. In contrast, the USA has a good reputation in preventive medicine with a high uptake of cancer screenings and flu vaccinations.
Healthcare Priorities
The most common causes of death in the USA are heart disease and cancer, followed closely in recent years by deaths attributed to COVID-19. A high number of deaths are from other noncommunicable causes such as diabetes and stroke.
Obesity is a leading healthcare priority in the USA, with obesity-related illnesses costing billions each year. As of 2017, over 40% of American adults were obese and this number is predicted to rise to more than 50% by 2030 without intervention. The prominence of obesity is in part due to large food portion sizes and a lack of exercise. At the forefront of tackling this problem is a push to provide healthcare education to children and young people. Important steps being taken include an emphasis on sport and healthier meals in school, issues that were highlighted in Michelle Obama’s 2010 “Let’s Move” initiative.
Tobacco use is another leading cause of preventative illness in the USA. Contributing to around 20% of deaths a year, smoking costs the USA billions of dollars annually. States receive money from tobacco sales, but typically do not reinvest this money into anti-smoking measures. There are no federal smoking bans in the USA, with the decision to prohibit smoking in certain areas left entirely up to individual state governments. Thirteen states have no smoking bans at all.
Mental health care in the USA is also highly criticised. An incidence of increasing mental health problems in the country, with a rising number of people suffering from depression, has highlighted a need for improved care. However, mental health care is often less accessible than physical healthcare and, in many cases, not covered by insurance. Therapy sessions often cost hundreds of dollars an hour out-of-pocket. The USA has the highest suicide rate of all developed countries, and the rate of suicide in the chronically ill is significantly higher than in other nations.
Genomic Medicine Capabilities
Genetic screening for newborns is state-mandated and uptake of this testing is around 95%. As newborn screening is controlled at state-level, the requirements of which tests must be carried out vary from region to region. However, national committees have identified 34 primary and 26 secondary conditions that should be screened for after birth, including phenylketonuria and sickle cell disease. This testing is strictly regulated, as genetic and non-genetic testing in the USA are given the same levels of oversight. In the District of Columbia (DC) for example, there is a legal requirement for healthcare professionals to clearly explain tests to parents, obtain explicit consent and act immediately upon the discovery of abnormal results.
With regards to adult genetic screening, the USA is known for high uptake of preventative treatments such as BRCA testing. A study comparing rates of BRCA screening in women between 2009 and 2014 showed a rise in people coming forward for testing. This led to a subsequent increase in preventative measures such as mastectomies. This was due in part to improved access to genetic services.
Following tests such as the above, individuals are often referred to genetic counsellors. Genetic counsellors are highly trained and must be accredited by the American Board of Genetic Counselling. As of 2021 there were over 5,600 genetic counsellors in the USA, a number which has doubled in the last decade. It is expected that an expansion of training programs will further increase this number to over 10,000 by 2030.
Genetic testing may be covered by an individual’s insurance policy, should it be recommended by a healthcare professional, but many choose to forego the large premiums associated with this and opt for direct-to-consumer testing (DTC) which can be carried out at home. Whilst there is a large market for DTC in the USA, many are concerned that their data will one day be sold to insurance companies, affecting their policies and access to healthcare, although this is currently illegal. Genetic testing is highly regulated in the USA, and all testing must be carried out in a Clinical Laboratory Improvement Amendments (CLIA) approved laboratory and testing must be approved by the Food and Drug Administration (FDA).
Notable Projects
All of Us Research Program: The All of Us Research Program is anongoing effort across the USA to create a diverse biobank for use in healthcare research and decisions. Over 1 million people will be recruited to provide DNA samples and healthcare data to build a resource that can be used to inform future healthcare and contribute to the development of precision medicine. The program has recently begun returning health-related results to over 150,000 participants.
ENCODE: A spin-off from the HGP, the ENCODE project was set up to investigate the role of non-coding DNA in the human genome and characterise different functional components and their effects.
Human Genome Project: Although the completion of the Human Genome Project (HGP) was an international collaboration, the work began in the USA and was largely completed and funded by American institutions. The project lasted 13 years and resulted in the first whole human genome sequence. Advances in technology meant that the project was finished two years ahead of schedule and massively under budget. The HGP has provided a basis for even more genomics research and has inspired a variety of spin off projects.
Million Veteran Program: The Million Veteran Program was launched in 2011 and almost one million volunteers have come forward to contribute genetic information to the database. The resource has been used for research into precision medicine for the treatment of veterans and the impact of military life on an individual’s health.
Mount Sinai Million Health Discoveries Program: This project, launched in 2022, aims to gather data from one million patients at Mount Sinai Hospital over a five-year period. Patients will contribute genomic data to the project, with a view to improving research in the precision medicine field.
NIGMS Human Genetic Cell Repository: The Human Genetic Cell Repository is a biobank hosted by the Coriell Institute for Medical Research. It comprises thousands of DNA samples and cell lines and has been used internationally since it was founded in 1972, cited almost 7,000 times.
Telomere-to-Telomere: The Telomere-to-Telomere Consortium sought to complete the human genome sequence in its entirety. While the HGP was revolutionary in its achievements, the resulting sequence still had gaps and unresolved areas due to complexities that could not be overcome with the technology of the time. The Telomere-to-Telomere project has resolved these areas and in March 2022 published the first “fully complete” version of the human genome.
The Cancer Genome Atlas: Launched in 2006, the Cancer Genome Atlas characterised over 20,000 different cancer types and contributed significant knowledge to the field of cancer research. The data remains publicly available for use and has helped to develop treatments and technologies.
The Human Pangenome Project High Quality Reference Genome: The Human Pangenome Consortium is funded by NHGRI and aims to develop a high-quality version of the human reference genome that reflects the diversity of the human population. Although there is international collaboration on the project, it is led by the University of California Santa Cruz.
UCSC Genome Browser: The UCSC Genome Browser is an interactive website that was developed in 1990 at the University of California Santa Cruz. The intention of this project was to provide a platform to browse through the initial results of the Human Genome Project, but today the website exists to allow access to genomes from over 100 different species and hosts a variety of data including gene annotations and mRNA alignments.
Notable Institutions and Organisations:
Broad Institute of MIT and Harvard: The Broad Institute was founded in 2004 off the back of collaborations between the Massachusetts Institute of Technology and Harvard University. Founded to improve genomic medicine, the Institute today hosts research into genomic regulation, epigenomics, cancer and much more.
Cold Spring Harbour Laboratory: Cold Spring Harbour Laboratory was founded over a century ago and in that time has been home to eight Nobel Prize winners, hosting research into genomics and cancer biology. The New York based non-profit organisation is widely regarded as one of the world’s leading molecular biology and genetics research institutes.
Coriell Institute for Medical Research: The Coriell Institute was founded in 1953 as a non-profit biomedical research organisation with a focus on human genomics. The Institute is famous for its extensive and diverse selection of biobanks, held in the Coriell Biorepositories.
Human Genome Sequencing Centre: Another contributor to the HGP, the Baylor College of Medicine Human Genome Sequencing Centre is responsible for the sequencing of many species including drosophila melanogaster, sea urchins and cows.
Human Pan Genome Reference Centre: This Washington-based institution is responsible for overseeing and coordinating Human Pangenome Reference projects. The centre is responsible for facilitating international collaboration and providing the necessary infrastructure for the projects.
J. Craig Venter Institute (JCVI): The JCVI was formed in 2006 after the amalgamation of the four previous research institute founded by J. Craig Venter. The JCVI is home to research in all aspects of genomics, including societal impacts. The Institute was responsible for the sequencing of the first diploid human genome.
National Centre for Biotechnology Information: Part of the National Institutes of Health and funded by the US government, NCBI hosts databases filled with genomic and biological. The NCBI is home to a range of fundamental tools used in modern-day biology such as the BLAST sequence alignment system and GenBank, a database of DNA sequences.
National Human Genome Research Institute (NHGRI): The NHGRI is one of 27 research institutes that make up the National Institutes of Health. Initially founded in 1988 as the Office of Human Genome Research, the NHGRI has been involved in many pivotal research projects over the years, not least the Human Genome Project. Today, the institute funds research into a wide variety of topics from computational biology to goldfish genomes.
New York Genome Centre: The New York Genome Centre was established in 2011 and in just over a decade has produced hundreds of publications contributing to the genomics field. The centre focuses on many aspects of genomics research, but notably became a prominent hub for COVID-19 research in 2020.
Rady Children’s Institute for Genomic Medicine: Part of Rady Children’s hospital in San Diego, the Genomics Institute offer rapid whole genome sequencing for infants to identify genetic diseases. Research at the institute focuses on precision medicine and rare disease.
Scripps Research: Scripps Research is one of the largest private, non-profit research institutes in the world and has been hailed as the most influential research centre globally. Work focuses on all aspects of biomedical research and multiple Nobel Laureates are among the faculty.
Stanford Genome Technology Centre: Part of the prestigious Stanford University, the Genome Technology Centre conducts research into new technologies for genomics research. Technology developed at the centre was used in the Human Genome Project. Their mission is to improve genomics research whilst lowering the associated costs of sequencing.
University of California Santa Cruz Genomics Institute: This research institute hosts multiple open-source platforms that are fundamental in genomics research, such as the UCSC Genome Browser and USCS Xena. The institute is home to the largest RNA research group in the world.
Whitehead Institute for Biomedical Research: Another leading research institute based in Massachusetts; the Whitehead Institute was the biggest contributor to the HGP. Since its inception in the 1980s, Whitehead scientists have produced highly impactful research in molecular biology and genetics. The institute places a big emphasis on education and training, hosting hundreds of students, and has been repeatedly touted as one of the best places to work as a post-doctoral researcher.
Notable People:
George Church: Known as the “Founding Father of Genomics,” few have contributed so much to the field as George Church. Church has played significant roles in the development of the first genomic sequencing technologies, DNA barcoding and nanopore sequencing. He was a pioneer in the HGP and was one of the first humans to have their genome sequenced. His work has been fundamental in the evolution of tools such as CRISPR.
Francis Collins: Now Scientific Advisor to the President, Francis Collins led the Human Genome Project and was director of the National Institutes of Health for 13 years. His most famous work is perhaps the discovery of the gene which causes cystic fibrosis.
Mark Daly: One of the key players in the HGP, Daly is one of the most cited scientists of all time. His team have developed a variety of widely used programs including PLINK and Haploview, key tools in genome wide association studies.
Jennifer Doudna: Professor Jennifer Doudna is a Washington-born biochemist who won the 2020 Nobel Prize in Chemistry alongside Emmanuel Charpentier for their revolutionary research into CRISPR-Cas systems. The gene-editing technology has changed the landscape of genomics and has been hailed as one of the most significant findings in biological research. Doudna and her team are still researching gene-editing technology, most recently discovering viral-derived CRISPR systems.
Andrew Fire: Andrew Fire won the 2006 Nobel Prize in Physiology or Medicine for the discovery of RNA interference (RNAi). The technique revolutionised genetic knock-out studies by using double stranded RNA to silence genes and inhibit protein production. Today, Fire is a Professor at Stanford Medical School.
Walter Gilbert: Gilbert was awarded the Nobel Prize in Chemistry alongside Frederick Sanger and Paul Berg in 1980 for his pioneering work in sequencing nucleic acids. An entrepreneur, Gilbert has founded multiple companies which contribute to genomics research.
Robert C. Green: Robert C. Green is a prominent geneticist who has led multiple high profile research projects in various fields such as Alzheimer’s research. He has published over 300 papers and is currently leading multiple NIH funded research projects investigating sequencing in adults, babies and military personnel.
David Haussler: David Haussler is a well-known bioinformatician who was responsible for the computational assembly of the first draft of the human genome. His team developed foundational tools such as the UCSC Genome Browser and Haussler is currently head of the UCSC Genomics Institute.
William Kaelin Jr: Another American Nobel Laureate, Kaelin’s research into how cells sense and adapt to oxygen availability was recognised by the Nobel committee in 2019. A prominent oncologist, Kaelin’s work has not only improved prospects for those with cancer but also for patients with kidney failure and anaemia.
Eric Lander: Lander was the Principal Leader of the HGP. He is known for developing tools to identify disease-causing genes and is named on 73 patents. Until February 2022 he co-chaired the government’s Council of Advisors on Science and Technology.
Barbara McClintock: A prominent researcher in the latter half of the 20th century, Barbara McClintock earned the 1983 Nobel Prize for her discovery of mobile genetic elements. She was the first woman to earn the Nobel Prize in Physiology or Medicine unshared, the first American to win any Nobel Prize alone and inspired a generation of women to pursue science.
Jay Shendure: Jay Shendure is a Professor at the University of Washington. He completed his PhD under the supervision of George Church and was pivotal in the development of next-generation sequencing. Since then, he has been a leader in exome sequencing and non-invasive fetal sequencing.
Eric Topol: Founder of Scripps Research, Eric Topol is responsible for many key discoveries in the genetics of cardiovascular disease. He is playing a key role in the development of the All of Us program and is also a best-selling author.
Ting Wu: Ting Wu is a geneticist known for her work in chromosome behaviour. Alongside her high-profile research, Wu is a prominent science educator, having worked with museums and even television shows to bring genetics education to the masses. She founded the Personal Genetics Education Project which works through schools and other mediums to nurture education in the field.
Future Genomics Landscape
As one of the leading nations when it comes to genomics research, there is huge scope for integrating genomics into healthcare in a more useful and consistent manner in the USA. There are calls for standardisation in areas such as newborn testing, which could see infants from all states receiving an equal level of care.
Research institutes and national centres such as NHGRI are placing a huge emphasis on the use of genomic medicine in the USA. Vast amounts of research are ongoing in the field, and the NHGRI’s Genomic Medicine Working Group was renewed in 2020 as part of the NHGRI’s strategic plans. The working group identifies areas in genomic medicine which require more funding or research and advises the NHGRI to act to fill these gaps. This work is complemented by projects like the Mount Sinai Million Health Discoveries project and All of Us, and in the coming years it is hoped that we will start to see precision treatments become standard across the USA.
References
Britannica: United States. Available at: https://www.britannica.com/place/United-States
World Bank Indicator. Available at: https://data.worldbank.org/indicator
Commonwealth Fund. US Healthcare from a Global Perspective. Available at: https://www.commonwealthfund.org/publications/issue-briefs/2020/jan/us-health-care-global-perspective-2019
CDC. Obesity. Available at: https://www.cdc.gov/obesity/data/adult.html
Public Health. Obesity – What can we do. Available at: https://www.publichealth.org/public-awareness/obesity/what-can-we-do/
MHA National. State of Mental Health in America. Available at: https://mhanational.org/issues/state-mental-health-america
Genetic Alliance; District of Columbia Department of Health. Understanding Genetics: A District of Columbia Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2010 Feb 17. Chapter 4, Newborn Screening. Available from: https://www.ncbi.nlm.nih.gov/books/NBK132148/National Institute of Child Health and Human Development. What disorders are newborns screened for in the US? Available at: https://www.nichd.nih.gov/health/topics/newborn/conditioninfo/disorders
