The Cost of Human Genome Sequencing: What You Need to Know

Human genome sequencing has come a long way since the Human Genome Project. The cost of DNA sequencing has dropped dramatically, making genetic testing more accessible. Let’s explore the current landscape of human genome sequencing costs and what it means for you.

The Human Genome Project initially required a staggering investment. The estimated cost for generating the first ‘draft’ human genome sequence was about $300 million worldwide, with NIH contributing roughly 50-60% of that total1. Refining this ‘draft’ into a ‘finished’ sequence added another $150 million to the bill1. In total, the project’s cost ranged from $500 million to $1 billion1.

Fast forward to today, and the picture looks very different. The global Next-Generation Sequencing market reached $7.37 billion in 2022 and is projected to grow at a CAGR of 16.1% from 2022 to 20302. This growth reflects the increasing affordability and demand for genetic testing.

In 2015, the cost to generate a high-quality ‘draft’ whole human genome sequence dropped below $1,500, while whole-exome sequencing costs fell under $1,0001. The trend continues, with some companies aiming to reduce costs even further. Illumina, which controls about 80% of the global DNA sequencing market, plans to bring the cost per human genome down to $200 with their new technology2.

Key Takeaways

  • Human genome sequencing costs have decreased significantly since the Human Genome Project.
  • The global Next-Generation Sequencing market is growing rapidly.
  • Whole genome sequencing costs less than $1,500 as of 2015.
  • Whole-exome sequencing is generally available for under $1,000.
  • Companies are working to further reduce costs, potentially to as low as $200 per genome.
  • Decreasing costs make genetic testing more accessible for individuals and researchers.

Understanding Human Genome Sequencing Costs

Genome sequencing expenses have dropped dramatically over the years. In 2007, sequencing an entire genome cost about $10 million, but today it’s around $60034. This price drop has made genetic testing more accessible, sparking a revolution in personalized medicine.

Breakdown of the Total Cost

DNA sequencing pricing includes several components:

  • Labor and administration
  • Reagents and consumables
  • Sequencing instruments
  • Data processing and analysis

While raw DNA sequencing costs have plummeted, interpretation costs remain high. The expenses for variant interpretation after DNA sequencing are not expected to fall as quickly as sequencing costs3.

What Influences Pricing?

Several factors affect genetic testing costs:

  1. Sequencing technology used
  2. Laboratory and service fees
  3. Geographic location
  4. Complexity of analysis required

Advancements like Illumina’s NovaSeq X series aim to further reduce costs to $200 per genome4. The integration of AI and machine learning in 2024 is set to enhance diagnostic accuracy and speed in Whole Genome Sequencing4.

Comparison with Other Genetic Tests

While Whole Genome Sequencing (WGS) is pricier than traditional genetic tests, it’s becoming more cost-effective for diagnosing rare diseases. The global Next-Generation Sequencing market is expected to grow significantly through 2030, driven by increased accessibility and demand for personalized medicine4.

Test Type Cost Range Coverage
Whole Genome Sequencing $600 – $1000 Entire genome
Whole Exome Sequencing $400 – $1500 Protein-coding regions
Targeted Gene Panel $300 – $2000 Specific set of genes

The Evolution of Genome Sequencing Prices

The genome sequencing history is a tale of rapid technological progress and plummeting costs. From the $2.7 billion Human Genome Project in 1990 to today’s affordable options, the journey has been remarkable5.

Historical Trends in Costs

In 2007, sequencing a human genome cost about $10 million. By 2013, it dropped to $10,000, and in recent years, it has fallen to around $60054. This dramatic decrease has made genetic testing more accessible to researchers and individuals alike.

Key Technological Advancements

The introduction of Next-Generation Sequencing (NGS) in 2008 sparked a revolution in DNA sequencing technology. NGS allowed for faster, more efficient sequencing of thousands of genomes, enhancing our understanding of human diseases4. CRISPR technology is now being adapted for sequencing, promising even quicker and more accurate genomic data reads.

Future Predictions for Costs

The future of genetic testing looks bright. Illumina’s new NovaSeq X series aims to reduce costs to $200 per genome while doubling speed5. Startup Ultima Genomics claims its machine could sequence a genome for as little as $100, putting pressure on industry leaders5. These advancements, coupled with AI integration, are expected to drive significant growth in the Whole Genome Sequencing market by 20304.

As costs continue to fall, experts predict that genomic sequencing at birth may become commonplace3. This could revolutionize personalized medicine, tailoring treatments based on individual genetic profiles. However, challenges remain, such as the high costs of variant interpretation and infrastructure requirements for clinics to use and store genomic data3.

Factors Affecting Genome Sequencing Expenses

Understanding the genome sequencing factors that influence costs is crucial for anyone considering this advanced genetic analysis. Let’s explore the key elements that impact pricing.

Type of Sequencing Technology

DNA sequencing technologies play a significant role in determining costs. Newer platforms like Illumina and SOLiD require 30-fold coverage, while older Sanger-based sequencing needs only 6-fold coverage. This difference in coverage directly affects the overall expense of the procedure6.

Laboratory and Service Fees

Laboratory costs encompass various aspects of the sequencing process. These include quality assessment, project management, and data analysis. The complexity of these services can significantly impact the final price of genome sequencing7.

Geographic Variations in Pricing

The cost of genome sequencing can vary widely based on location. These differences stem from variations in healthcare expenditures and the availability of sequencing services in different regions. For example, a study in Melbourne found that singleton exome sequencing cost AU$3,100, while trio exome sequencing was considered a cost-effective alternative7.

Factor Impact on Cost
Sequencing Technology High – Newer tech requires more coverage
Laboratory Services Medium – Varies based on complexity
Geographic Location Variable – Depends on local healthcare costs

It’s important to note that while production costs are typically included in price calculations, non-production activities like technology development and downstream data analysis are often excluded. This can lead to hidden costs that patients should be aware of when considering genome sequencing1.

Insurance Coverage for Genome Sequencing

Genome sequencing insurance is evolving as genetic testing becomes more common in diagnosing rare diseases. Many patients wonder about genetic testing coverage and how to navigate the complex world of reimbursement for DNA testing.

What to Expect from Your Policy

Insurance coverage for genome sequencing varies widely. Half of insured individuals in the U.S. have coverage only for exome sequencing (ES), while 37% have no coverage for genome sequencing (GS) or ES, and 12% have coverage for both GS and ES8. It’s crucial to check with your provider about specific policies for genetic testing.

Common Insurance Providers

Large national and regional health plans are represented in genome sequencing coverage. Private health plans on the UCSF Center for Translational and Policy Research on Personalized Medicine Payer Advisory Board cover 162 million enrollees8. Some insurers are open to broader GS coverage but require more evidence to consider its advantages in decision-making.

Navigating Reimbursement Processes

Navigating reimbursement for DNA testing can be tricky. Work closely with your healthcare provider and genetic counselor to demonstrate medical necessity. Some insurers have specific criteria for when whole exome or whole genome sequencing is considered medically necessary, including pre- and post-test genetic counseling requirements9. Be prepared to provide comprehensive information about your clinical situation to support your claim.

Remember, genetic testing coverage policies are regularly updated. For instance, one major insurer’s policy is effective from 1/15/2024 with the next review date set for 1/15/20259. Stay informed about your policy’s updates to ensure you have the most current information when seeking genome sequencing insurance.

The Value of Investing in Genome Sequencing

Genome sequencing has become a game-changer in healthcare and scientific research. The cost of this technology has plummeted from nearly $10 million in 2008 to around $1,000 today, making it more accessible than ever10. This dramatic decrease in price has opened up new possibilities for personalized medicine and genetic research.

Health Benefits and Opportunities

Investing in genome sequencing can yield significant health benefits. About 1 in 6 healthy adults may be at an increased risk for a serious health condition due to their genetics without knowing it11. Genome sequencing can uncover these hidden risks, allowing for early intervention and prevention strategies.

Personalized Medicine and Treatment

The benefits of genome sequencing extend to personalized medicine. Between 1% and 4% of individuals undergoing genomic testing receive secondary findings that may point to severe yet treatable diseases11. This information allows doctors to tailor treatments to a patient’s genetic profile, potentially improving outcomes and reducing side effects.

Contributions to Research

Genome sequencing is also driving advances in genetic research. The global genomics market is projected to reach $54.4 billion by 2025, growing at a 19.0% compound annual rate11. This growth is fueling new discoveries and innovations in healthcare. By 2025, up to 2 billion people could have their genomes sequenced, providing a vast pool of data for researchers to study and analyze11.

As the cost of genome sequencing continues to fall, with some experts predicting a $500 genome in the near future, its value in healthcare and research is set to increase exponentially10. The Precision Medicine Initiative aims to leverage this genetic information for personalized medical care and treatment advances, promising a new era of healthcare tailored to individual genetic profiles10.

Comparing Different Genome Sequencing Services

The world of genome sequencing companies is rapidly evolving, with new players entering the market and established firms innovating to stay competitive. This dynamic landscape offers a variety of DNA testing services to meet diverse needs.

Leading Companies in the Field

Illumina remains a dominant force in the genome sequencing industry. Their NovaSeq X platform can deliver up to 16 Tb per run and up to 26 billion single-reads per flow cell, showcasing impressive capabilities12. Element Biosciences’ AVITI, a mid-throughput sequencer, offers unique features like superior accuracy and multi-omic analysis capabilities12.

Service Delivery Options

Genome sequencing services come in various forms. Whole-genome sequencing provides a comprehensive view of an individual’s DNA, while whole-exome sequencing focuses on protein-coding regions. The cost of sequencing a person’s genome has dropped from over a billion dollars for the first genome to less than $1000 today13.

Quality vs. Cost Considerations

When choosing a DNA testing service, it’s crucial to balance cost and genetic testing quality. Complete Genomics’ DNBSEQ-T7 has emerged as a preferred choice among high-throughput sequencers due to its lower initial investment, reduced operational costs, and flexible throughput6. Ultima Genomics’ UG100 claims to achieve a $100 per genome sequencing cost, offering competitive pricing in the market6.

The rapid advancement in genomic technologies has led to a significant reduction in sequencing costs. The per-genome sequencing costs have decreased by approximately five orders of magnitude within a 20-year span from the early 2000s to 20226. This dramatic cost reduction has made genome sequencing more accessible for research and clinical applications.

How to Prepare for a Genome Sequencing Test

Preparing for a genome sequencing test involves understanding the process and its implications. Genome sequencing preparation is crucial for making informed decisions about your health.

What You Need to Know Beforehand

Before taking a DNA test, it’s important to grasp the basics. Genome sequencing can reveal insights about your health, ancestry, and potential genetic risks. The cost of sequencing has dropped significantly over the years, making it more accessible. In 2006, sequencing a human genome cost $20-$25 million, but today it’s much more affordable14.

Pre-Test Counseling and Education

Genetic counseling is a vital part of the genome sequencing process. A genetic counselor can explain the test, its potential outcomes, and limitations. They’ll help you understand how the results might impact you and your family. This step is essential for making an informed choice about whether to proceed with the test.

Discussing Costs with Your Provider

DNA test costs vary widely. A 2018 review found that a single genome sequencing test can range from $555 to $24,81014. It’s crucial to discuss these costs with your healthcare provider. They can help you understand what your insurance might cover and any potential out-of-pocket expenses. Remember, the total cost includes sample processing, data analysis, result interpretation, and data storage14.

By taking these steps, you’ll be well-prepared for your genome sequencing test. Understanding the process, seeking genetic counseling, and clarifying costs will help you make the most of this powerful tool for personal health insights.

Understanding Hidden Fees and Additional Costs

When considering genome sequencing, it’s crucial to be aware of hidden genetic testing costs that can impact your budget. While the price of DNA sequencing itself has decreased, other expenses may catch you off guard.

Additional Tests and Follow-up Procedures

After initial sequencing, you might need extra tests to confirm findings or explore specific genetic variants. These can add to your out-of-pocket genetics expenses. For example, targeted panels for cancer patients can cost between $695 and $286115.

Interpretation and Consultation Costs

Understanding your genetic data requires expert analysis. Interpretation fees can be a significant part of DNA sequencing fees. Data analysis accounts for about 9.2% of total costs, while data storage adds another 2.6%15.

Potential Out-of-Pocket Expenses

Insurance may not cover all aspects of genetic testing. You might face out-of-pocket expenses for genetic counseling or specialized follow-up tests. A study in Brisbane found that whole genome sequencing costs ranged from AU$2895 to AU$4830 per person15.

Cost Component Percentage of Total Cost
Library Preparation/Sequencing Materials 76.8%
Sample Extraction 8.1%
Data Analysis 9.2%
Data Storage 2.6%
Other Costs 3.3%

Be prepared for these potential hidden costs when considering genome sequencing. It’s wise to discuss all possible expenses with your healthcare provider before proceeding.

Community Resources and Financial Assistance

Getting genome sequencing can be costly, but many resources exist to help offset these expenses. Let’s explore the various avenues for genetic testing financial aid and genome sequencing assistance.

Nonprofits and Support Groups

Numerous nonprofit organizations offer support for those seeking DNA testing grants. The iHope program, for instance, has helped over 2000 patients, with 43% receiving a diagnosis after clinical whole-genome sequencing16. These groups often provide financial assistance and guidance to individuals and families navigating the complexities of genetic testing.

Government Programs for Genetic Testing

Government initiatives are making genetic testing more accessible. Medicare now covers the cost of whole-genome sequencing tests like ChromoSeq for certain cancer patients, significantly reducing expenses from over $1 million to a few thousand dollars per test17. This development marks a major stride in making advanced genetic testing more affordable for those who need it most.

Grants and Scholarships

Research institutions and universities often provide grants or scholarships for genomic studies. For example, WashU Medicine commits over $1 billion annually to research innovation and training, with a 52% growth in NIH research funding in recent years17. This investment creates opportunities for individuals to participate in genomic research while receiving financial support.

The landscape of genetic testing is evolving rapidly. By 2023, genomics testing covered 1.3 billion lives, expanding its reach significantly16. As costs continue to decrease and more funding options become available, access to genome sequencing is becoming a reality for many who previously couldn’t afford it.

The Future of Genome Sequencing Pricing

The landscape of genome sequencing is evolving rapidly, with costs plummeting and technology advancing at breakneck speed. Recent innovations in the field of DNA sequencing are reshaping the future of genetic testing. The NovaSeq X series from Illumina, for instance, can now output up to 16 Tb per run and up to 26 billion single-reads per flow cell, delivering the same output in half the time of its predecessor12.

Predictions Based on Current Trends

The cost of sequencing a human genome dropped below $1,000 by 2019, marking a significant milestone in genetic testing innovations6. This trend is set to continue, with companies like Complete Genomics and Ultima Genomics introducing sequencers capable of achieving a $100 to $200 genome cost by 20246. These advancements in the future of DNA sequencing are making genetic testing more accessible than ever before.

Innovations that May Reduce Costs

Emerging technologies are driving costs down further. The DNBSEQ-T20x2 sequencing platform from Complete Genomics can produce 50,000 whole genome sequences per year for under $100 per 30x human genome6. Element AVITI, a mid-throughput sequencer, offers superior accuracy and the ability to perform multi-omic analysis on up to 1 million cells12. These innovations are not only reducing costs but also expanding the possibilities of genetic research.

The Role of Public Health Initiatives

Public health genomics initiatives are playing a crucial role in making genome sequencing more accessible. Studies show that whole genome sequencing (WGS) can be more cost-effective than traditional methods, with a mean healthcare cost per patient $2,339 lower compared to conventional approaches18. As costs decrease, researchers are sequencing thousands of organisms for the first time and millions of individual human cells for analysis, advancing cancer research and other disease studies12. This trend suggests that genome sequencing may soon become a standard part of medical care, revolutionizing disease diagnosis and treatment.

Q&A

How much does human genome sequencing cost today?

As of 2023, the cost of whole-genome sequencing has dropped significantly, with prices ranging from 0 to

How much does human genome sequencing cost today?

As of 2023, the cost of whole-genome sequencing has dropped significantly, with prices ranging from $600 to $1,500. Some companies are even aiming to reduce costs to as low as $200 per genome in the near future.

How has the cost of genome sequencing changed over time?

The cost has dramatically decreased since the Human Genome Project. Initially costing between $500 million to $1 billion, it dropped to about $14 million by 2006. By 2015, whole-genome sequencing costs fell below $1,500, and the trend continues downward.

What factors influence the price of genome sequencing?

Several factors affect pricing, including the type of sequencing technology used, laboratory and service fees, geographic location, and the specific type of genetic test (whole-genome vs. whole-exome sequencing). The level of analysis and interpretation required also impacts the overall cost.

Does insurance cover genome sequencing?

Insurance coverage for genome sequencing varies widely among providers. As it becomes more common in diagnosing rare diseases, more insurance companies are considering coverage. It’s best to check with your specific insurance provider regarding their policies for genetic testing.

What are the benefits of investing in genome sequencing?

Genome sequencing offers significant health benefits, including improved diagnosis of rare diseases, personalized treatment plans, and contributions to medical research. It plays a crucial role in advancing personalized medicine, allowing for tailored therapies based on an individual’s genetic makeup.

Are there hidden fees in genome sequencing?

Yes, there can be hidden fees. These may include costs for additional tests, follow-up procedures, and consultations for result interpretation. While the sequencing itself has become cheaper, the expertise required to analyze and interpret the data can add significant costs.

How do I prepare for a genome sequencing test?

Preparation involves understanding the potential implications of the results, participating in pre-test counseling and education, and discussing costs with your healthcare provider. It’s important to understand what the test can and cannot tell you, as well as potential out-of-pocket expenses.

Are there resources available to help with the cost of genome sequencing?

Yes, various resources can help offset costs. These include nonprofit organizations, support groups, government programs for genetic testing, and grants or scholarships from research institutions and universities. Some of these resources are specifically aimed at individuals with rare diseases or those participating in genomic studies.

What does the future look like for genome sequencing costs?

The future looks promising, with costs expected to continue decreasing. Innovations like Illumina’s NovaSeq X series and Ultima Genomics’ technology aim to bring costs down to $200 or even $100 per genome. As costs decrease and technology improves, genome sequencing may become a standard part of medical care.

How does whole-genome sequencing compare to other genetic tests in terms of cost?

Whole Genome Sequencing (WGS) is generally more expensive than traditional genetic testing methods. However, it’s becoming more cost-effective for diagnosing rare diseases as it provides a comprehensive view of an individual’s entire genetic makeup. Whole-exome sequencing, which focuses on the protein-coding regions of genes, is typically less expensive than WGS but more expensive than targeted genetic tests.

,500. Some companies are even aiming to reduce costs to as low as 0 per genome in the near future.

How has the cost of genome sequencing changed over time?

The cost has dramatically decreased since the Human Genome Project. Initially costing between 0 million to

f genome sequencing?

Several factors affect pricing, including the type of sequencing technology used, laboratory and service fees, geographic location, and the specific type of genetic test (whole-genome vs. whole-exome sequencing). The level of analysis and interpretation required also impacts the overall cost.

Does insurance cover genome sequencing?

Insurance coverage for genome sequencing varies widely among providers. As it becomes more common in diagnosing rare diseases, more insurance companies are considering coverage. It’s best to check with your specific insurance provider regarding their policies for genetic testing.

What are the benefits of investing in genome sequencing?

Genome sequencing offers significant health benefits, including improved diagnosis of rare diseases, personalized treatment plans, and contributions to medical research. It plays a crucial role in advancing personalized medicine, allowing for tailored therapies based on an individual’s genetic makeup.

Are there hidden fees in genome sequencing?

Yes, there can be hidden fees. These may include costs for additional tests, follow-up procedures, and consultations for result interpretation. While the sequencing itself has become cheaper, the expertise required to analyze and interpret the data can add significant costs.

How do I prepare for a genome sequencing test?

Preparation involves understanding the potential implications of the results, participating in pre-test counseling and education, and discussing costs with your healthcare provider. It’s important to understand what the test can and cannot tell you, as well as potential out-of-pocket expenses.

Are there resources available to help with the cost of genome sequencing?

Yes, various resources can help offset costs. These include nonprofit organizations, support groups, government programs for genetic testing, and grants or scholarships from research institutions and universities. Some of these resources are specifically aimed at individuals with rare diseases or those participating in genomic studies.

What does the future look like for genome sequencing costs?

The future looks promising, with costs expected to continue decreasing. Innovations like Illumina’s NovaSeq X series and Ultima Genomics’ technology aim to bring costs down to $200 or even $100 per genome. As costs decrease and technology improves, genome sequencing may become a standard part of medical care.

How has the cost of genome sequencing changed over time?

The cost has dramatically decreased since the Human Genome Project. Initially costing between $500 million to $1 billion, it dropped to about $14 million by 2006. By 2015, whole-genome sequencing costs fell below $1,500, and the trend continues downward.

What factors influence the price of genome sequencing?

Several factors affect pricing, including the type of sequencing technology used, laboratory and service fees, geographic location, and the specific type of genetic test (whole-genome vs. whole-exome sequencing). The level of analysis and interpretation required also impacts the overall cost.

Does insurance cover genome sequencing?

Insurance coverage for genome sequencing varies widely among providers. As it becomes more common in diagnosing rare diseases, more insurance companies are considering coverage. It’s best to check with your specific insurance provider regarding their policies for genetic testing.

What are the benefits of investing in genome sequencing?

Genome sequencing offers significant health benefits, including improved diagnosis of rare diseases, personalized treatment plans, and contributions to medical research. It plays a crucial role in advancing personalized medicine, allowing for tailored therapies based on an individual’s genetic makeup.

Are there hidden fees in genome sequencing?

Yes, there can be hidden fees. These may include costs for additional tests, follow-up procedures, and consultations for result interpretation. While the sequencing itself has become cheaper, the expertise required to analyze and interpret the data can add significant costs.

How do I prepare for a genome sequencing test?

Preparation involves understanding the potential implications of the results, participating in pre-test counseling and education, and discussing costs with your healthcare provider. It’s important to understand what the test can and cannot tell you, as well as potential out-of-pocket expenses.

Are there resources available to help with the cost of genome sequencing?

Yes, various resources can help offset costs. These include nonprofit organizations, support groups, government programs for genetic testing, and grants or scholarships from research institutions and universities. Some of these resources are specifically aimed at individuals with rare diseases or those participating in genomic studies.

What does the future look like for genome sequencing costs?

The future looks promising, with costs expected to continue decreasing. Innovations like Illumina’s NovaSeq X series and Ultima Genomics’ technology aim to bring costs down to $200 or even $100 per genome. As costs decrease and technology improves, genome sequencing may become a standard part of medical care.

How does whole-genome sequencing compare to other genetic tests in terms of cost?

Whole Genome Sequencing (WGS) is generally more expensive than traditional genetic testing methods. However, it’s becoming more cost-effective for diagnosing rare diseases as it provides a comprehensive view of an individual’s entire genetic makeup. Whole-exome sequencing, which focuses on the protein-coding regions of genes, is typically less expensive than WGS but more expensive than targeted genetic tests.

,500, and the trend continues downward.

What factors influence the price of genome sequencing?

Several factors affect pricing, including the type of sequencing technology used, laboratory and service fees, geographic location, and the specific type of genetic test (whole-genome vs. whole-exome sequencing). The level of analysis and interpretation required also impacts the overall cost.

Does insurance cover genome sequencing?

Insurance coverage for genome sequencing varies widely among providers. As it becomes more common in diagnosing rare diseases, more insurance companies are considering coverage. It’s best to check with your specific insurance provider regarding their policies for genetic testing.

What are the benefits of investing in genome sequencing?

Genome sequencing offers significant health benefits, including improved diagnosis of rare diseases, personalized treatment plans, and contributions to medical research. It plays a crucial role in advancing personalized medicine, allowing for tailored therapies based on an individual’s genetic makeup.

Are there hidden fees in genome sequencing?

Yes, there can be hidden fees. These may include costs for additional tests, follow-up procedures, and consultations for result interpretation. While the sequencing itself has become cheaper, the expertise required to analyze and interpret the data can add significant costs.

How do I prepare for a genome sequencing test?

Preparation involves understanding the potential implications of the results, participating in pre-test counseling and education, and discussing costs with your healthcare provider. It’s important to understand what the test can and cannot tell you, as well as potential out-of-pocket expenses.

Are there resources available to help with the cost of genome sequencing?

Yes, various resources can help offset costs. These include nonprofit organizations, support groups, government programs for genetic testing, and grants or scholarships from research institutions and universities. Some of these resources are specifically aimed at individuals with rare diseases or those participating in genomic studies.

What does the future look like for genome sequencing costs?

The future looks promising, with costs expected to continue decreasing. Innovations like Illumina’s NovaSeq X series and Ultima Genomics’ technology aim to bring costs down to 0 or even 0 per genome. As costs decrease and technology improves, genome sequencing may become a standard part of medical care.

How does whole-genome sequencing compare to other genetic tests in terms of cost?

Whole Genome Sequencing (WGS) is generally more expensive than traditional genetic testing methods. However, it’s becoming more cost-effective for diagnosing rare diseases as it provides a comprehensive view of an individual’s entire genetic makeup. Whole-exome sequencing, which focuses on the protein-coding regions of genes, is typically less expensive than WGS but more expensive than targeted genetic tests.

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