12.3: Whole Genome Methods and Industrial Applications (2023)

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    Learning Objectives

    • Explain the uses of genome-wide comparative analyses
    • Summarize the advantages of genetically engineered pharmaceutical products

    Advances in molecular biology have led to the creation of entirely new fields of science. Among these are fields that study aspects of whole genomes, collectively referred to as whole-genome methods. In this section, we’ll provide a brief overview of the whole-genome fields of genomics, transcriptomics, and proteomics.

    Genomics, Transcriptomics, and Proteomics

    The study and comparison of entire genomes, including the complete set of genes and their nucleotide sequence and organization, is called genomics. This field has great potential for future medical advances through the study of the human genome as well as the genomes of infectious organisms. Analysis of microbial genomes has contributed to the development of new antibiotics, diagnostic tools, vaccines, medical treatments, and environmental cleanup techniques.

    The field of transcriptomics is the science of the entire collection of mRNA molecules produced by cells. Scientists compare gene expression patterns between infected and uninfected host cells, gaining important information about the cellular responses to infectious disease. Additionally, transcriptomics can be used to monitor the gene expression of virulence factors in microorganisms, aiding scientists in better understanding pathogenic processes from this viewpoint.

    When genomics and transcriptomics are applied to entire microbial communities, we use the terms metagenomics and metatranscriptomics, respectively. Metagenomics and metatranscriptomics allow researchers to study genes and gene expression from a collection of multiple species, many of which may not be easily cultured or cultured at all in the laboratory. A DNA microarray (discussed in the previous section) can be used in metagenomics studies.

    Another up-and-coming clinical application of genomics and transcriptomics is pharmacogenomics, also called toxicogenomics, which involves evaluating the effectiveness and safety of drugs on the basis of information from an individual’s genomic sequence. Genomic responses to drugs can be studied using experimental animals (such as laboratory rats or mice) or live cells in the laboratory before embarking on studies with humans. Changes in gene expression in the presence of a drug can sometimes be an early indicator of the potential for toxic effects. Personal genome sequence information may someday be used to prescribe medications that will be most effective and least toxic on the basis of the individual patient’s genotype.

    The study of proteomics is an extension of genomics that allows scientists to study the entire complement of proteins in an organism, called the proteome. Even though all cells of a multicellular organism have the same set of genes, cells in various tissues produce different sets of proteins. Thus, the genome is constant, but the proteome varies and is dynamic within an organism. Proteomics may be used to study which proteins are expressed under various conditions within a single cell type or to compare protein expression patterns between different organisms.

    The most prominent disease being studied with proteomic approaches is cancer, but this area of study is also being applied to infectious diseases. Research is currently underway to examine the feasibility of using proteomic approaches to diagnose various types of hepatitis, tuberculosis, and HIV infection, which are rather difficult to diagnose using currently available techniques.1

    A recent and developing proteomic analysis relies on identifying proteins called biomarkers, whose expression is affected by the disease process. Biomarkers are currently being used to detect various forms of cancer as well as infections caused by pathogens such as Yersinia pestis and Vaccinia virus.2

    Other “-omic” sciences related to genomics and proteomics include metabolomics, glycomics, and lipidomics, which focus on the complete set of small-molecule metabolites, sugars, and lipids, respectively, found within a cell. Through these various global approaches, scientists continue to collect, compile, and analyze large amounts of genetic information. This emerging field of bioinformatics can be used, among many other applications, for clues to treating diseases and understanding the workings of cells.

    Additionally, researchers can use reverse genetics, a technique related to classic mutational analysis, to determine the function of specific genes. Classic methods of studying gene function involved searching for the genes responsible for a given phenotype. Reverse genetics uses the opposite approach, starting with a specific DNA sequence and attempting to determine what phenotype it produces. Alternatively, scientists can attach known genes (called reporter genes) that encode easily observable characteristics to genes of interest, and the location of expression of such genes of interest can be easily monitored. This gives the researcher important information about what the gene product might be doing or where it is located in the organism. Common reporter genes include bacterial lacZ, which encodes beta-galactosidase and whose activity can be monitored by changes in colony color in the presence of X-gal as previously described, and the gene encoding the jellyfish protein green fluorescent protein (GFP) whose activity can be visualized in colonies under ultraviolet light exposure (Figure \(\PageIndex{1}\)).

    12.3: Whole Genome Methods and Industrial Applications (2)

    Exercise \(\PageIndex{1}\)

    1. How is genomics different from traditional genetics?
    2. If you wanted to study how two different cells in the body respond to an infection, what –omics field would you apply?
    3. What are the biomarkers uncovered in proteomics used for?

    Clinical Focus: Resolution

    Because Kayla’s symptoms were persistent and serious enough to interfere with daily activities, Kayla’s physician decided to order some laboratory tests. The physician collected samples of Kayla’s blood, cerebrospinal fluid (CSF), and synovial fluid (from one of her swollen knees) and requested PCR analysis on all three samples. The PCR tests on the CSF and synovial fluid came back positive for the presence of Borrelia burgdorferi, the bacterium that causes Lyme disease.

    Kayla’s physician immediately prescribed a full course of the antibiotic doxycycline. Fortunately, Kayla recovered fully within a few weeks and did not suffer from the long-term symptoms of post-treatment Lyme disease syndrome (PTLDS), which affects 10–20% of Lyme disease patients. To prevent future infections, Kayla’s physician advised her to use insect repellant and wear protective clothing during her outdoor adventures. These measures can limit exposure to Lyme-bearing ticks, which are common in many regions of the United States during the warmer months of the year. Kayla was also advised to make a habit of examining herself for ticks after returning from outdoor activities, as prompt removal of a tick greatly reduces the chances of infection.

    Lyme disease is often difficult to diagnose. B. burgdorferi is not easily cultured in the laboratory, and the initial symptoms can be very mild and resemble those of many other diseases. But left untreated, the symptoms can become quite severe and debilitating. In addition to two antibody tests, which were inconclusive in Kayla’s case, and the PCR test, a Southern blot could be used with B. burgdorferi-specific DNA probes to identify DNA from the pathogen. Sequencing of surface protein genes of Borrelia species is also being used to identify strains within the species that may be more readily transmitted to humans or cause more severe disease.

    Recombinant DNA Technology and Pharmaceutical Production

    Genetic engineering has provided a way to create new pharmaceutical products called recombinant DNA pharmaceuticals. Such products include antibiotic drugs, vaccines, and hormones used to treat various diseases. Table \(\PageIndex{1}\) lists examples of recombinant DNA products and their uses.

    For example, the naturally occurring antibiotic synthesis pathways of various Streptomyces spp., long known for their antibiotic production capabilities, can be modified to improve yields or to create new antibiotics through the introduction of genes encoding additional enzymes. More than 200 new antibiotics have been generated through the targeted inactivation of genes and the novel combination of antibiotic synthesis genes in antibiotic-producing Streptomyces hosts.3

    Genetic engineering is also used to manufacture subunit vaccines, which are safer than other vaccines because they contain only a single antigenic molecule and lack any part of the genome of the pathogen (see Vaccines). For example, a vaccine for hepatitis B is created by inserting a gene encoding a hepatitis B surface protein into a yeast; the yeast then produces this protein, which the human immune system recognizes as an antigen. The hepatitis B antigen is purified from yeast cultures and administered to patients as a vaccine. Even though the vaccine does not contain the hepatitis B virus, the presence of the antigenic protein stimulates the immune system to produce antibodies that will protect the patient against the virus in the event of exposure.4 5

    Genetic engineering has also been important in the production of other therapeutic proteins, such as insulin, interferons, and human growth hormone, to treat a variety of human medical conditions. For example, at one time, it was possible to treat diabetes only by giving patients pig insulin, which caused allergic reactions due to small differences between the proteins expressed in human and pig insulin. However, since 1978, recombinant DNA technology has been used to produce large-scale quantities of human insulin using E. coli in a relatively inexpensive process that yields a more consistently effective pharmaceutical product. Scientists have also genetically engineered E. coli capable of producing human growth hormone (HGH), which is used to treat growth disorders in children and certain other disorders in adults. The HGH gene was cloned from a cDNA library and inserted into E. coli cells by cloning it into a bacterial vector. Eventually, genetic engineering will be used to produce DNA vaccines and various gene therapies, as well as customized medicines for fighting cancer and other diseases.

    Table \(\PageIndex{1}\): Some Genetically Engineered Pharmaceutical Products and Applications
    Recombinant DNA ProductApplication
    Atrial natriuretic peptideTreatment of heart disease (e.g., congestive heart failure), kidney disease, high blood pressure
    DNaseTreatment of viscous lung secretions in cystic fibrosis
    ErythropoietinTreatment of severe anemia with kidney damage
    Factor VIIITreatment of hemophilia
    Hepatitis B vaccinePrevention of hepatitis B infection
    Human growth hormoneTreatment of growth hormone deficiency, Turner’s syndrome, burns
    Human insulinTreatment of diabetes
    InterferonsTreatment of multiple sclerosis, various cancers (e.g., melanoma), viral infections (e.g., Hepatitis B and C)
    TetracenomycinsUsed as antibiotics
    Tissue plasminogen activatorTreatment of pulmonary embolism in ischemic stroke, myocardial infarction

    Exercise \(\PageIndex{2}\)

    1. What bacterium has been genetically engineered to produce human insulin for the treatment of diabetes?
    2. Explain how microorganisms can be engineered to produce vaccines.

    RNA Interference Technology

    In Structure and Function of RNA, we described the function of mRNA, rRNA, and tRNA. In addition to these types of RNA, cells also produce several types of small noncoding RNA molecules that are involved in the regulation of gene expression. These include antisense RNA molecules, which are complementary to regions of specific mRNA molecules found in both prokaryotes and eukaryotic cells. Non-coding RNA molecules play a major role in RNA interference (RNAi), a natural regulatory mechanism by which mRNA molecules are prevented from guiding the synthesis of proteins. RNA interference of specific genes results from the base pairing of short, single-stranded antisense RNA molecules to regions within complementary mRNA molecules, preventing protein synthesis. Cells use RNA interference to protect themselves from viral invasion, which may introduce double-stranded RNA molecules as part of the viral replication process (Figure \(\PageIndex{2}\)).

    12.3: Whole Genome Methods and Industrial Applications (3)

    Researchers are currently developing techniques to mimic the natural process of RNA interference as a way to treat viral infections in eukaryotic cells. RNA interference technology involves using small interfering RNAs (siRNAs) or microRNAs (miRNAs) (Figure \(\PageIndex{3}\)). siRNAs are completely complementary to the mRNA transcript of a specific gene of interest while miRNAs are mostly complementary. These double-stranded RNAs are bound to DICER, an endonuclease that cleaves the RNA into short molecules (approximately 20 nucleotides long). The RNAs are then bound to RNA-induced silencing complex (RISC), a ribonucleoprotein. The siRNA-RISC complex binds to mRNA and cleaves it. For miRNA, only one of the two strands binds to RISC. The miRNA-RISC complex then binds to mRNA, inhibiting translation. If the miRNA is completely complementary to the target gene, then the mRNA can be cleaved. Taken together, these mechanisms are known as gene silencing.

    12.3: Whole Genome Methods and Industrial Applications (4)

    Key Concepts and Summary

    • The science of genomics allows researchers to study organisms on a holistic level and has many applications of medical relevance.
    • Transcriptomics and proteomics allow researchers to compare gene expression patterns between different cells and shows great promise in better understanding global responses to various conditions.
    • The various –omics technologies complement each other and together provide a more complete picture of an organism’s or microbial community’s (metagenomics) state.
    • The analysis required for large data sets produced through genomics, transcriptomics, and proteomics has led to the emergence of bioinformatics.
    • Reporter genes encoding easily observable characteristics are commonly used to track gene expression patterns of genes of unknown function.
    • The use of recombinant DNA technology has revolutionized the pharmaceutical industry, allowing for the rapid production of high-quality recombinant DNA pharmaceuticals used to treat a wide variety of human conditions.
    • RNA interference technology has great promise as a method of treating viral infections by silencing the expression of specific genes.


    1. 1 E.O. List, D.E. Berryman, B. Bower, L. Sackmann-Sala, E. Gosney, J. Ding, S. Okada, and J.J. Kopchick. “The Use of Proteomics to Study Infectious Diseases.” Infectious Disorders-Drug Targets (Formerly Current Drug Targets-Infectious Disorders) 8 no. 1 (2008): 31–45.
    2. 2 Mohan Natesan, and Robert G. Ulrich. “Protein Microarrays and Biomarkers of Infectious Disease.” International Journal of Molecular Sciences 11 no. 12 (2010): 5165–5183.
    3. 3 Jose-Luis Adrio and Arnold L. Demain. “Recombinant Organisms for Production of Industrial Products.” Bioengineered Bugs 1 no. 2 (2010): 116–131.
    4. 4 U.S. Department of Health and Human Services. “Types of Vaccines.” 2013. www.vaccines.gov/more_info/types/#subunit. Accessed May 27, 2016.
    5. 5 The Internet Drug List. Recombivax. 2015. http://www.rxlist.com/recombivax-drug.htm. Accessed May 27, 2016.


    How long does COVID whole genome sequencing take? ›

    Urgent samples come from cases where it is unclear how they might have been infected, or when additional evidence is needed to confirm which cluster they belong to. How long does it take to complete a genomic sequence? For rapid/urgent samples we typically have a result within 24 hours.

    What does whole genome sequencing tell you? ›

    Whole-genome sequencing (WGS) is a comprehensive method for analyzing entire genomes. Genomic information has been instrumental in identifying inherited disorders, characterizing the mutations that drive cancer progression, and tracking disease outbreaks.

    Should I get my genome sequenced? ›

    Not only can genomic sequencing be used to diagnose mystery diseases, but it can also make the diagnostic journey much easier for a variety of diseases. Instead of going through hundreds of different time-consuming and often painful tests, it is possible to get a full diagnosis from just genomic sequencing.

    How can I get my genome sequenced for free? ›

    No problem: A new startup called Nebula Genomics offers you the opportunity to have it done for free. To qualify for a free genome sequence, you'll have to provide some information about your health, which is then shared with researchers, in addition to your DNA data.

    Which country does the most genome sequencing for COVID? ›

    The rate of the number of SARS-CoV-2 genomic sequences per reported COVID-19 case varied widely among countries. Iceland sequenced the highest proportion of reported cases (up to 30% of all cases).

    How much does it cost to get your genome sequenced? ›

    The cost of single-gene testing can vary widely, ranging from around $100 to several thousand dollars. BRCA testing, for example, traditionally costs $3000 to $4000 for a single gene.

    What diseases can genome sequencing detect? ›

    Evaluating the role of WGS
    • Fragile X syndrome (intellectual disability)
    • Huntington's disease.
    • Friedreich's ataxia.
    • some forms of amyotrophic lateral sclerosis (ALS)
    • frontal lobe (or frontotemporal) dementia.
    Feb 18, 2022

    What are the benefits of whole genome testing? ›

    Whole genome sequencing provides detailed and precise data for identifying outbreaks sooner. Additionally, whole genome sequencing is used to characterize bacteria as well as track outbreaks; this greatly improves the efficiency of how PulseNet conducts surveillance.

    What are the disadvantages of whole genome sequencing? ›

    The biggest disadvantage of whole genome sequencing (WGS) is that the process generates data on a large scale. The vast volumes of data generated requires additional storage capacity and more time to analyze. This increases the cost as well as the time required for analysis.

    Is genome sequencing covered by insurance? ›

    In many cases, health insurance plans will cover the costs of genetic testing when it is recommended by a person's doctor. Health insurance providers have different policies about which tests are covered, however. A person may wish to contact their insurance company before testing to ask about coverage.

    What are the risks of gene sequencing? ›

    Generally genetic tests have little physical risk. Blood and cheek swab tests have almost no risk. However, prenatal testing such as amniocentesis or chorionic villus sampling has a small risk of pregnancy loss (miscarriage). Genetic testing can have emotional, social and financial risks as well.

    How accurate is whole genome sequencing? ›

    Typical read accuracy ranges from ~90% for traditional long reads to >99% for short reads and HiFi reads. Consensus accuracy, on the other hand, is determined by combining information from multiple reads in a data set, which eliminates any random errors in individual reads.

    Does Medicare cover whole genome sequencing? ›

    Medicare will cover next generation sequencing if you have:

    Recurrent, relapsed, refractory, metastatic, or advanced stage III or IV cancer. Not been previously tested using NGS for the same cancer and genetic content.

    Does Medicare cover genome sequencing? ›

    Medicare has limited coverage of genetic testing for an inherited genetic mutation. Medicare covers genetic testing for people with a cancer diagnosis who meet certain criteria; you must have a cancer diagnosis to qualify for coverage of genetic testing for an inherited mutation under Medicare.

    What is the cheapest genome sequencing method? ›

    Considerations for DNA sequencing

    Currently, second-generation NGS technologies are the most commonly used approach because they remain the fastest and the cheapest form of gene sequencing.

    Which virus causes Covid-19 DNA or RNA? ›

    Coronaviruses (CoVs) are positive-stranded RNA(+ssRNA) viruses with a crown-like appearance under an electron microscope (coronam is the Latin term for crown) due to the presence of spike glycoproteins on the envelope.

    What gene is affected by Covid-19? ›

    Two genome-wide association studies (GWAS) have shown that 3P21. 31 and the 9q34 region containing ABO blood group sites are significantly associated with severe COVID-19 24, 25.

    What is the genome mutation rate of COVID? ›

    Despite the proofreading mechanisms of the virus, mutation rates of coronaviruses are between 10 5 and 10 3 substitutions per nucleotide site per cell infection (s/n/c); therefore, several mutations have been detected by wide-range sequencing [3, 4].

    Can an entire human genome be sequenced? ›

    No. Throughout the Human Genome Project, researchers continually improved the methods for DNA sequencing. However, they were limited in their abilities to determine the sequence of some stretches of human DNA (e.g., particularly complex or highly repetitive DNA).

    What does 23 and me mean? ›

    The company's name is derived from the 23 pairs of chromosomes in a diploid human cell. 23andMe Holding Co. Former headquarters in Sunnyvale, California. Type. Public.

    How many human genomes have been sequenced? ›

    Today, about 30 million people have had their genomes sequenced.

    What is a difference between genetic testing and genome sequencing? ›

    So the take away message is: genetic testing is used to look for inherited mutations in healthy cells and genomic sequencing is used to look at genetic mutations in unhealthy cells.

    What information can your genome reveal? ›

    The Human Genome Project was designed to generate a resource that could be used for a broad range of biomedical studies. One such use is to look for the genetic variations that increase risk of specific diseases, such as cancer, or to look for the type of genetic mutations frequently seen in cancerous cells.

    What does genome testing test for? ›

    What is Genetic Testing? Genetic testing looks for changes, sometimes called mutations or variants, in your DNA. Genetic testing is useful in many areas of medicine and can change the medical care you or your family member receives.

    Why are scientists using whole genome sequencing? ›

    Whole genome sequencing reveals the complete DNA make-up of an organism, enabling us to better understand variations both within and between species. This in turn allows us to differentiate between organisms with a precision that other technologies do not allow.

    What are the cons of genetic screening? ›

    Some disadvantages, or risks, that come from genetic testing can include:
    • Testing may increase your stress and anxiety.
    • Results in some cases may return inconclusive or uncertain.
    • Negative impact on family and personal relationships.
    • You might not be eligible if you do not fit certain criteria required for testing.

    What are 3 ethical issues that caution people against genome sequencing? ›

    We identify three major ethical considerations that have been implicated in whole-genome research: the return of research results to participants; the obligations, if any, that are owed to participants' relatives; and the future use of samples and data taken for whole-genome sequencing.

    What is the difference between PCR and whole genome sequencing? ›

    The basic difference between the two is that Sanger sequencing is used to generate every possible length of DNA up to the full length of the target DNA while PCR is used to duplicate the entire DNA sequence.

    What is a whole-genome diagnosis? ›

    Genome sequencing (or whole genome sequencing) is a comprehensive test capable of detecting nearly all DNA variation in a genome. Sequencing can diagnose most of the > 6000 conditions listed in the Online Mendelian Inheritance in Man database (www.omim.org) for which the genetic basis is currently understood.

    Can whole genome sequencing be used to diagnose a disease? ›

    Whole-genome sequencing for rare disease has the power to help doctors diagnose genetic diseases quickly, helping families avoid long diagnostic odysseys. Of all genomic testing methods, WGS offers the highest likelihood of finding a diagnosis.

    Can ancestry DNA be used against you? ›

    The Genetic Information Nondiscrimination Act (GINA) — United States law (the Genetic Information Nondiscrimination Act or “GINA”) generally makes it illegal for health insurance companies, group health plans, and most employers to discriminate against you based on your genetic information.

    Does 23andMe do whole genome sequencing? ›

    23andMe uses genotyping, not sequencing, to analyze your DNA.

    Why is genome sequencing unethical? ›

    Medical sequencing raises ethical issues for both individuals and populations, including data release and identifiability, adequacy of consent, reporting research results, stereotyping and stigmatization, inclusion and differential benefit and culturally and community-specific concerns.

    What are the harms of gene therapy? ›

    Genetic therapies hold promise to treat many diseases, but they are still new approaches to treatment and may have risks. Potential risks could include certain types of cancer, allergic reactions, or damage to organs or tissues if an injection is involved. Recent advances have made genetic therapies much safer.

    What are 4 potential risks for gene therapy? ›

    This technique presents the following risks:
    • Unwanted immune system reaction. Your body's immune system may see the newly introduced viruses as intruders and attack them. ...
    • Targeting the wrong cells. ...
    • Infection caused by the virus. ...
    • Possibility of causing a tumor.
    Dec 29, 2017

    How long does it take to get whole genome sequencing results? ›

    Because of the technical complexity and multi-step nature of whole genome sequencing, the standard process typically can take from 10 to 12 weeks once the lab has recieved your sample. If the lab is especially busy, processing time may extend up to 16 weeks.

    How much DNA do you need for whole genome sequencing? ›

    DNA Sample Submission- Typically 100 to 1000 nanograms of DNA are required for whole genome or whole exome sequencing. Targeted panels or amplicon based sequencing can use as little as 1 to 10 ng of input material.

    What is the best method for whole genome sequencing? ›

    Shotgun sequencing is a classic strategy for whole genome sequencing. The shotgun sequencing strategy provides a technical guarantee for large-scale sequencing.

    Does ancestry use whole genome sequencing? ›

    The Ultimate Genome Sequencing uses 30x clinical-grade whole genome sequencing to test your DNA. In addition to providing detailed results about your ancestry, this test can also: Assess your risk of developing preventable diseases. Determine whether you carry genes for rare diseases.

    Should you get your genome sequenced? ›

    Not only can genomic sequencing be used to diagnose mystery diseases, but it can also make the diagnostic journey much easier for a variety of diseases. Instead of going through hundreds of different time-consuming and often painful tests, it is possible to get a full diagnosis from just genomic sequencing.

    What is a good coverage for genome sequencing? ›

    Sequencing Coverage Recommendations
    Sequencing MethodRecommended Coverage
    Whole genome sequencing (WGS)30× to 50× for human WGS (depending on application and statistical model)
    Whole-exome sequencing100×
    2 more rows

    Does Medicare Part B cover genetic testing? ›

    Medicare Part B Coverage of Genetic Tests

    Medicare Part B does not cover genetic tests used for predictive purposes. However, it does cover genetic tests used for diagnostic purposes under certain conditions.

    Which genetic disease can be detected using NGS? ›

    Neurogenetics. Genomic research has uncovered genes linked to Alzheimer's disease, multiple sclerosis, Huntington's disease, and Parkinson's disease.

    What is average cost of whole genome sequencing? ›

    It is massively parallel method that can provide high speed and large scle squencing. The cost of a human genome sequence decreased from an estimated $1 million in 2007, to $1000 in 2014, and today it is approximately $600.

    Why is genome sequencing cost dropping? ›

    Advances in the field of genomics over the past quarter-century have led to substantial reductions in the cost of genome sequencing.

    How much did the original whole genome sequencing cost? ›

    In fact, the cost of sequencing the first human genome was about $3 billion [9], and it took several international institutes, hundreds of researchers and 13 years to complete.

    How fast is whole genome sequencing? ›

    A research effort led by Stanford scientists set the first Guinness World Record for the fastest DNA sequencing technique, which was used to sequence a human genome in just 5 hours and 2 minutes.

    How long does it take now to sequence a human genome? ›

    Genome sequencing

    One human genome can be sequenced in about a day, though the analysis takes much longer.

    How long does genomic testing take? ›

    How long does a genomic test take? Because of the size of a human genome, the complex analysis needed, and the multidisciplinary team required, a genomic test can take up to nine months to provide a result.

    Why is genome sequencing difficult? ›

    A genome's sequence cannot be read out end-to-end. Rather, researchers must first determine the sequence of random pieces of DNA and then use those smaller sequences to put the whole genome sequence back together like a massive puzzle.

    How much does 30x sequencing cost? ›

    So right now, the price is about $600 or $700 if you want to buy 30X whole genome sequencing. We are doing it at $299,” Grishin said. Of note, many D2C genetic testing offerings, like 23andMe's $99 basic service, are not whole genome sequencing but instead focus on only a few base pairs.

    Is genome the same as DNA? ›

    A genome is all of the genetic material in an organism. It is made of DNA (or RNA in some viruses) and includes genes and other elements that control the activity of those genes.

    What is genome sequencing of Covid 19? ›

    Scientists use genomic sequencing to identify which variant of SARS-CoV-2 is in a specimen. Scientists are consistently accumulating sequences and analyzing similarities and differences among these sequences in a process called genomic surveillance.

    What does genetic testing look for? ›

    Genetic testing looks for changes, sometimes called mutations or variants, in your DNA. Genetic testing is useful in many areas of medicine and can change the medical care you or your family member receives.

    What happens if genetic testing is positive? ›

    A positive result means that testing has identified a gene change or genetic mutation in one or more of the genes analyzed. This type of result may be called a pathogenic or disease-causing variant. A positive result typically means that you're at higher risk of developing a hereditary condition.

    How accurate is genetic testing? ›

    The accuracy of genetic tests to detect mutated genes varies, depending on the condition being tested for and whether or not the gene mutation was previously identified in a family member. Even if you don't have the mutated gene, that doesn't necessarily mean you'll never get the disease.

    What are the risks of genetic testing? ›

    Some disadvantages, or risks, that come from genetic testing can include:
    • Testing may increase your stress and anxiety.
    • Results in some cases may return inconclusive or uncertain.
    • Negative impact on family and personal relationships.
    • You might not be eligible if you do not fit certain criteria required for testing.

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