The case for proactive genetic testing: why forward-thinking lab leaders test early
Kenneth Bloom, Ph.D.
Head of Oncology and Immunotherapy Human Longevity Inc.
Laboratory Genetic Counselor,
Pathologist, The Cleveland Clinic Foundation; Pathologist and Medical Director of ePathology, Cleveland Clinic
Pathology Department Chairman
Vice President, Boston Healthcare
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."
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."
Pathologist and Medical Director of ePathology,
From the cancer genome atlas:
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.
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.
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."
Human Longevity Inc.
- Breast cancer ..............................................
- Colon cancer ...............................................
- Pancreatic cancer ......................................
- Ovarian cancer ...........................................
- Melanoma ....................................................
- Thyroid cancer ............................................
- Prostate cancer ...........................................
- BRCA1/2, ATM, CDH1, CHEK2, MRE11A, NBN2
- APC, MLH1, MSH2, MSH6, PMS23
- BRCA1/2, PALB2, STK114
- BRCA1/2, MLH1, MSH25
- CDKN2A, MDm2, CDK4, RB16
- RET, BRAF, P13KCA, RAS7
- 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.
- 57-year-old female
- Mother died of BRCA1+ breast cancer
Diagnosed stage I ER+ breast cancer after 10 years of screening
- 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
- Breast cancer screening at a higher frequency
- Began discussing a preventative hysterectomy
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.
- Make a business case for proactive genetic testing
- Demonstrate how the cost of proactive genetic testing offsets the overall cost of care
- Cost of earlier vs. delayed risk evaluation
- Cost of earlier vs. delayed diagnosis
- Cost of preventive vs. reactive intervention
Other cost considerations
- Patient selection
- 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.
REFERENCES: 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". Dermnetnz.org. 2017. Web. 10 May 2017. 7. Allan V Espinosa, Jill Gilbert. "Molecular Profiling Of Thyroid Cancer - My Cancer Genome". Mycancergenome.org. 2017. Web. 10 May 2017. 8. Genetics. "Prostate Cancer". Genetics Home Reference. 2017. Web. 10 May 2017.
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