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Adopting consistent terms for genetic testing in precision medicine

In an effort to improve communication between patients and providers about genetic testing needs for cancer, LUNGevity Foundation coordinated a working group of stakeholders who evaluated terms used in legit essay writing service and clinical care. Ultimately, the group agreed on three terms to replace thirty-three other related terms, in hopes of simplifying things for patients. 

In 2003, the completion of the Human Genome Project ushered in the Genomic Era and headlines promised a utopian future free of disease, along with a cure for cancer. As with most things, this was easier said than done. We discovered that our own genomic landscape was vastly more complex than we initially thought and eventually realized that the same was true for the diseases we were attempting to defeat. The development of newer and cheaper testing technologies has made genetic testing more affordable and accessible, but also contributed to a dizzying array of terms that has proven difficult for the public and non-genetic specialists to digest. Add to that a shifting insurance and healthcare system that was slow to respond to the breathtaking pace of genomic discovery and it is no surprise that the use of genetic testing in clinical practice has been inconsistent and sporadic[1],[2]. This is curious, however, because the ascendant rise of direct-to-consumer testing shows that public demand for genetic testing is high. So why has the use of genetic testing in clinical settings lagged so disappointingly far behind?

Addressing Obstacles Patients and Providers Face with Terminology

One possible answer is that patients and providers are overwhelmed by the complexities of testing and lack a common vocabulary to begin meaningful discussion. Without a shared language to help bridge this knowledge gap, patients may be unwilling to ask for testing and providers may be unwilling to offer it. Confusion about genetic testing then is not unique to the field of genetic counseling but is an unfortunate reality for patients and care providers across health care. Increasingly, this confusion is recognized as a cheap essay writing service to meaningful discussions about genetic testing.

Identifying Consistent, Accurate and Understandable Medical Terms

What began as a pilot project within the LUNGevity Foundation has since grown into a multi-stakeholder working group dedicated to defining consistent testing terms in precision medicine and outlining a path forward.

The Consistent Testing Terminology Working Group is made up of over 40 patient advocacy groups, professional societies, and industry partners that recently published a white paper outlining their work.

The working group identified more than 30 different terms currently in use to describe germline (inherited genetic material)  and tumor testing technologies and results. The working group sought to identify “umbrella terms” that were patient-friendly, accurate and inclusive of both solid and hematologic malignancies (like leukemias or lymphomas). These terms were also chosen to be flexible, both allowing individual groups to further define the terms as needed and foreseeing future changes in testing technologies. Ultimately, three terms were selected and recommended to replace these 33 other terms.

Working Group Recommendations for Immediate Adoption

“Biomarker testing” is now the preferred term for tests that identify characteristics or markers originating from malignant tissue. Examples of biomarker testing include CA125 levels to assess disease state in some patients with ovarian cancer or tumor sequencing to direct treatment choice in some patients with lung cancer. “research paper topics for an inherited mutation” and “genetic testing for inherited cancer risk” are now the preferred terms for tests that identify germline mutations or variants. These terms seek to clearly differentiate between germline and somatic or tumor testing, which is a common source of patient confusion.

In the oncology world, the need for accurate and consistent terminology is even more pressing. Consider a patient with ovarian cancer who has had biomarker testing for BRCA1/BRCA2 mutations to determine the appropriateness of PARP-inhibitors. If she incorrectly believes that this testing is comparable to germline testing, she may decline germline testing that could identify the familial mutation and allow informative testing in her children and grandchildren. Conversely a patient who had “negative genetic testing” through an outside office prior to a cancer diagnosis may falsely believe that he or she does not need biomarker testing now for the purposes of treatment. These discussions are further complicated by the evolving nature of panel testing for inherited mutations (such that a negative result now does not rule out a positive result in the future) and that biomarker testing may need to be repeated as tumor characteristics may change over time. Widespread use of consistent testing terminology is not the only solution but is an important first step to bridging these knowledge gaps and enabling more words counter for essays and productive conversations between patients and providers.

In the words of the working group, “it is time to harmonize language, simplify communications and clearly explain the goals of testing.” This work represents an opportunity for genetic counselors to do what we do best – break down complicated information into digestible pieces for the benefit of patient and public alike. Additionally, genetic counselors work in all areas of genomic medicine and are thus uniquely positioned to encourage broad adoption of the working group’s recommendations. By committing to the use of consistent testing terminology the working group seeks to empower all players in the field of precision medicine to pursue more meaningful and thoughtful use of genetic testing technologies.