The Case for Proactive Genetic Testing

The case for proactive genetic testing: why forward-thinking lab leaders test early

Kenneth Bloom, Ph.D.

Kenneth Bloom, Ph.D.

Head of Oncology and Immunotherapy Human Longevity Inc.

Jessie Conta

Jessie Conta

Laboratory Genetic Counselor,
Supervisor; Seattle Children's

Thomas Bauern

Thomas Bauer

Pathologist, The Cleveland Clinic Foundation; Pathologist and Medical Director of ePathology, Cleveland Clinic

Michael Laposata

Michael Laposata

Pathology Department Chairman
University of Texas Medical
Branch at Galveston

Charles Matthews

Charles Matthews

Vice President, Boston Healthcare
Board Member, MassMedic



On the essential need for genetic testing


Somewhere around 2004, we started to have kits where we could do genetics for infectious disease, then kits where we could start figuring out who inherited what. And then it got really big, and we realized that somebody who has cancer could have 50 or 60 relevant genes that would dictate chemotherapy and identify prognosis. Suddenly, genetic testing became essential."

Michael Laposata
Pathology Department Chairman
University of Texas Medical Branch at Galveston

Genetic testing has opened new doors to understanding disease and treating patients. While we are still only on the cusp of understanding the human genome, major strides have been made to tailor patients' treatments based on their genetic makeup. This is particularly true when it comes to cancer.

However, tailoring treatment is only one side of the story. Cutting-edge research is illuminating expanded uses for genetic testing–before treating a disease is even a consideration.

Lets take a look at how genetic testing is predominantly used today and how forward-thinking lab leaders are already using it to redefine cancer care–as well as the value of the lab.


Genetic testing today: reacting to disease

In most cases, genetic testing is used reactively, after a cancer diagnosis has been made. This means testing the tumor for specific genetic mutations to determine the optimal course of care.

This eliminates a trial-and-error approach in favor of a targeted-treatment approach. To a greater extent than ever before, it enables the right treatment for the right patient at the right time.

On targeting tumors

We talk about repurposing oncology drugs or even other drugs that weren't intended for oncology but are found to have action against specific mutations. And, when a tumor is recognized as having that mutation, no matter what it looks like, it may well respond to that drug. That's going to be a big part of pathology going forward."

Thomas Bauer
Pathologist, The Cleveland Clinic Foundation
Pathologist and Medical Director of ePathology,
Cleveland Clinic
The most common cancer mutations
From the cancer genome atlas:
of tumors
of tumors
The targeted benefits of
post-diagnosis genetic testing


  • Avoid unnecessary disease progression
  • Avoid the expense of ineffective treatment
  • Avoid the emotional burden of ineffective care


  • Avoid the labor of delivering ineffective care
  • Avoid the expense of failed therapy
  • Avoid reputation damage and low patient satisfaction

Genetic testing is largely responsible for the recent strides in cancer treatment. Yet for all these benefits, the reactive use of genetic testing only creates value after the tumor has been identified.

How can its use extend earlier in the continuum of care, to extend the value of this cutting-edge approach?


Forward-thinking uses: proactive intervention

Today's most insightful lab leaders are paving the way for newer applications of genetic testing. Rather than using it reactively to treat disease, they are using it proactively to help prevent it.

Consider this.

It's estimated that 5%-10% of cancers are hereditary. In many cases, these cancers can be traced back to a specific germline mutation that was inherited at birth. In patients with a strong family history of cancer, genetic testing enables them to better evaluate their risk.1

Better proactive risk evaluation enables earlier intervention–even before a tumor has emerged.

Partnership is in your genes
Genetic testing represents a prime opportunity for interdisciplinary lab collaboration. This means genetic/molecular laboratorians and pathologists engaging each other on the biggest challenges and opportunities at stake. Only together can you bring the promise of genetic testing to life for your institution.

On the power of the pathologist


It's not just about whether the mutation was identified appropriately and what is the meaning of that mutation. It's the context of the big picture. And I don't know anybody other than a pathologist that's trained appropriately to do that. We just have to embrace all of these technologies and bring them together."

Kenneth Bloom, Ph.D.
Head of Oncology and Immunotherapy
Human Longevity Inc.
Tying genetic mutations to cancer risk
Many common cancers have ties to specific genetic mutations. Here are some gene panels designed to evaluate risk that you can start leveraging today.
Cancer type
  • Breast cancer ..............................................
  • Colon cancer ...............................................
  • Pancreatic cancer ......................................
  • Ovarian cancer ...........................................
  • Melanoma ....................................................
  • Thyroid cancer ............................................
  • Prostate cancer ...........................................
Associated gene mutation
  • BRCA1/2, ATM, CDH1, CHEK2, MRE11A, NBN2
  • APC, MLH1, MSH2, MSH6, PMS23
  • BRCA1/2, PALB2, STK114
  • BRCA1/2, MLH1, MSH25
  • CDKN2A, MDm2, CDK4, RB16
  • BRCA1/2, HOXB138

Identifying specific inherited mutations like these allows patients and their physicians to determine what proactive measures are appropriate. This could mean anything from more frequent routine screenings to more extreme preventative measures.

And what can facilitate this life-changing intervention? The lab.

Patient case: proactive genetic testing, proactive intervention
  • 57-year-old female
  • Mother died of BRCA1+ breast cancer
Cancer identified early

Diagnosed stage I ER+ breast cancer after 10 years of screening

Proactive genetic testing
  • Identified BRCA1 mutation
  • Insight: studies suggest female BRCA1 mutation carriers have a:
    • 57%-87%lifetime risk of breast cancer (and increased risk of a second breast cancer)
    • 39%-40% lifetime risk of ovarian cancer

Proactive intervention
  • Breast cancer screening at a higher frequency
  • Began discussing a preventative hysterectomy
Early intervention

Rather than doing a routine lumpectomy, the oncologist opted for a radical bilateral mastectomy due to her elevated risk of developing a second breast cancer


Getting paid for proactive testing

Genetic testing is not cheap–with many tests costing upward of thousands of dollars. While the test itself is purely for evidence, the learnings can greatly affect the quality of care and outcomes.

Your objective

  • Make a business case for proactive genetic testing

Your approach

  • Demonstrate how the cost of proactive genetic testing offsets the overall cost of care

Key criteria

  • Cost of earlier vs. delayed risk evaluation
  • Cost of earlier vs. delayed diagnosis
  • Cost of preventive vs. reactive intervention

Other cost considerations

  • Patient selection
  • Outcomes
  • Patient satisfaction
  • Resource allocation
  • Institutional goals

Lead the future of proactive genetic testing

As we continue to learn more about the human genome, the value of proactive genetic testing will surely increase-not only in oncology but across a plethora of disease states. While we still don't know the specific causes of gene mutations, the ability to identify them and act accordingly has the potential to change the way we diagnose and treat patients.

Don't wait for these advancements to come to you. Take the lead in your lab and bring them to your institution. This will help you drive cutting-edge care and create invaluable benefits that your entire enterprise will feel.



  1. "Genetic Testing For Hereditary Cancer Syndromes". National Cancer Institute., 2017. Web. 10 May 2017.
  2. "Genetic Testing For Hereditary Cancer Syndromes". National Cancer Institute. 2017. Web. 10 May 2017.
  3. "Genetics Of Colorectal Cancer". National Cancer Institute. 2017. Web. 10 May 2017.
  4. Klein, Alison P. "Genetic Susceptibility To Pancreatic Cancer". 2017. Print.
  5. Genetics. "Ovarian Cancer". Genetics Home Reference. 2017. Web. 10 May 2017.
  6. "Genetics Of Melanoma Dermnet New Zealand". 2017. Web. 10 May 2017.
  7. Allan V Espinosa, Jill Gilbert. "Molecular Profiling Of Thyroid Cancer - My Cancer Genome". 2017. Web. 10 May 2017.
  8. Genetics. "Prostate Cancer". Genetics Home Reference. 2017. Web. 10 May 2017.

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