Why Forward-Thinking Lab Leaders Are Investing in Whole-Genome Sequencing

Why Forward-Thinking Lab Leaders Are Investing in Whole-Genome Sequencing
Market Forces

Article highlights:

  • Whole-genome sequencing is a valuable tool that has opened the door to explore the entire human genome
  • Labs and physicians see the value of whole-genome sequencing because of its potential benefits to population health
  • Getting payers on board is a challenge that may soon be overcome

Genetic testing has transformed the way we understand the human genome. It opens endless possibilities for understanding genetics on a deeper level so physicians can continue to proactively treat patients. But when it comes to collecting a massive amount of valuable patient data, one genetic test reigns supreme: whole-genome sequencing.

Let’s explore why forward-thinking lab leaders are investing in whole-genome sequencing and how it can help your lab stay ahead of the curve.

Positively impacting workflow


Sequencing the entire genome means running 3.2 billion genes at once and getting back 4 million variants within that one test. Although this may seem like quite the process up front, the time labs save on the back end is extremely valuable.

Consider this: When labs run the whole-genome once, it never needs to be sequenced again. It never needs to be reconstituted a second time. A new workflow process doesn’t need to take place. Simply put, it never changes. And once we begin to understand more of the human genome, run it once and you can answer any question down the road.

Kenneth J. Bloom, M.D.

President and Head of Oncology
Human Longevity, Inc.

The proactive approach needed to improve population health


While whole-genome sequencing does not currently provide the depth needed to answer questions regarding tumor profiling, it may do so in the near future. In fact, it may take genetic testing one step further by helping accountable care organizations (ACOs) move closer to achieving population health.

Once we learn more about the entire human genome, physicians and labs can begin to predict what could go wrong in patients in the future. This not only improves the lab’s value, it improves health care as a whole. But, there’s one challenge labs and physicians are now facing: How can they get payers on board?

Cost will decrease, proactive care will rise


Cost remains a large barrier in the way of adopting whole-genome sequencing as standard practice. But, there’s a good chance payers will begin to see the value it provides as knowledge of genetics grows. A good way to make the case for whole-genome sequencing is to show the cost savings behind proactive care.

The belief is that if patients do whole-genome sequencing when they are healthy it can inform physicians about any predispositions to cancer, heart disease and other major health issues. Testing the whole-genome may prevent a portion of wasted spending on wrongly prescribed medications.

It also provides information on other genetic factors by:
  • Identifying how patients metabolize a variety of medications through pharmacogenomics
  • Determining recessive gene functions
  • Predicting and proactively planning to treat any potential medical problems in the foreseeable future

Kenneth J. Bloom, M.D.

President and Head of Oncology
Human Longevity, Inc.

The future of testing is here


Whole-genome sequencing has not only opened the door to explore the entire human genome, it has changed the way we approach treating patients today. Labs and physicians may soon be able to get ahead of predisposed conditions and cut costs in the process. The value of whole-genome sequencing is clear. And, once payers get on board, existing barriers may fall, enabling labs to lead the charge toward population health success.


  1. National Human Genome Research Institute. The Human Genome Project Completion: Frequently Asked Questions. National Human Genome Research Institute Web site. Accessed June 15, 2021.
  2. Online Mendelian Inheritance in Man. OMIM Update List. Online Mendelian Inheritance in Man Web site. Accessed June 15, 2021.

Contributing Lab Leader

Kenneth Bloom, PhD

Chief Medical Officer of Advanced Pathology and Genomic Services

Invicro and Ambry Genetics, Konica Minolta Companies


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