New research in JNCCN highlights dangerous disparities for life-saving cancer screening

New research in the January 2021 issue of JNCCN--Journal of the National Comprehensive Cancer Network finds more than a third of eligible people miss timely screening tests for colorectal cancer and at least a quarter appear to miss timely screening tests for breast and cervical cancers. The study comes from the University of Alberta, Faculty of Medicine and Dentistry in Alberta, Canada, with findings based on self-reported results from the Canadian Community Health Survey (CCHS) from 2007-2016. According to the author, the results also point to evidence of screening disparities being linked to lower socioeconomic status and identifiable minority race--echoing a similar study conducted in the United States by the Centers for Disease Control.[1]

"We already have high-quality evidence showing that recommended cancer screening saves lives. From a cost perspective, it is far cheaper to have an efficient cancer screening program and lower cancer-specific mortality than to have a high incidence of advanced incurable cancers that would cost the system much more--not to mention the lost opportunities for healthy, cancer-free individuals to work and contribute to the economy," said Omar M. Abdel-Rahman Abdelsalam, MBBCh, MSc, MD, Assistant Professor of Medical Oncology, University of Alberta. "These findings show we need more measures to eliminate socioeconomic-related health disparities in our communities, even where healthcare is publicly funded. The most powerful intervention to improve screening rates would be to invest more in primary care and make sure every individual is linked to a family physician who can track their adherence to recommended screening tests."

Dr. Abdel-Rahman looked at self-reported data for 99,820 people eligible for colorectal cancer screening, 59,724 people eligible for breast cancer screening, and 46,767 in the cervical cancer screening cohort, based on Canadian guidelines from 2007 through 2016. 43% did not have a timely screening test for colorectal, 35% did not have timely mammography, and 25% did not have a timely PAP smear. There were modest increases in screening compliance throughout the study's duration according to self-reporting within the survey.

"Dr. Abdel-Rahman's study adds to the literature showing that decreased levels of adherence to common cancer screening practices are associated with social and economic disparities," commented Mark Helvie, MD, Director, Breast Imaging Division, University of Michigan Rogel Cancer Center, Vice-Chair, NCCN Guidelines® Panel for Breast Cancer Screening and Diagnosis, who was not involved with this research. "Colorectal cancer screening had the lowest compliance with over a third reporting not being screened. While important differences exist between the NCCN Guidelines for screening and the Canadian screening guidelines--especially regarding colonoscopy and initiation and frequency of mammography--they all agree there is a need for more targeted efforts, research, and education to understand and improve compliance among all individuals, as illustrated by this study's results."

The research data does not include any impact from the COVID-19 pandemic. However, the publication is particularly timely as doctors report concerning drop-offs of screening numbers, which are projected to possibly result in thousands of excess cancer deaths over the next ten years.[2] The study further highlights how economic and racial disparities contribute to unequal health outcomes and showcases the need for interventions that go beyond coverage for health services alone.

More than 25,000 oncologists and other cancer care professionals across the United States read JNCCN--Journal of the National Comprehensive Cancer Network. This peer-reviewed, indexed medical journal provides the latest information about innovation in translational medicine, and scientific studies related to oncology health services research, including quality care and value, bioethics, comparative and cost effectiveness, public policy, and interventional research on supportive care and survivorship. JNCCN features updates on the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), review articles elaborating on guidelines recommendations, health services research, and case reports highlighting molecular insights in patient care. JNCCN is published by Harborside.

About the National Comprehensive Cancer Network

The National Comprehensive Cancer Network® (NCCN®) is a not-for-profit alliance of leading cancer centers devoted to patient care, research, and education. NCCN is dedicated to improving and facilitating quality, effective, efficient, and accessible cancer care so patients can live better lives. The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) provide transparent, evidence-based, expert consensus recommendations for cancer treatment, prevention, and supportive services; they are the recognized standard for clinical direction and policy in cancer management and the most thorough and frequently-updated clinical practice guidelines available in any area of medicine. The NCCN Guidelines for Patients® provide expert cancer treatment information to inform and empower patients and caregivers, through support from the NCCN Foundation®.

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Widely-Available Genetic Risk Tests Aren't Always Useful – and Could Even be Harmful

Genetic testing used to be something that happened in a specialist clinic for those few families that had serious inherited conditions, like Huntington’s Disease or rare cancers.

Now, new genetic tests called “polygenic risk scores” have increased access to genetic risk information for a wide range of conditions. With a few clicks of a mouse and a few hundred dollars, anyone can access their or their genetic risk scores for diabetes, obesity, breast cancer, autism, and schizophrenia.

These scores aren’t always useful, and, in some cases, they could be harmful.

Results can be misleading
Previous approaches to genetic testing looked at just one gene for which particular mutations are known to cause disease. The newer technology of polygenic risk scores is calculated from hundreds, if not thousands, of genetic markers measured from your DNA at many points on the genome. These measurements are fed into a formula, based on studying people who do or do not have a condition, to produce a “personalised” genetic risk score.

While researchers are looking at how these tests might be used by doctors to predict type 1 diabetes in newborns, or prescribe the right medications for people with heart disease, companies like 23andme are forging ahead with products that offer polygenic risk scores for diabetes and other conditions to their customer base of over 10 million. As these are classified as “general wellness” products by US regulators, they can be provided without medical support.

Before we jump wholeheartedly into the new world of genetic health and medicine, it’s important to consider the implications for patients and clinicians, and especially for consumers outside the clinic. Even if risk scores incorporate information from many different genes, there are two things they currently miss.

First, polygenic risk scores currently account for only a small proportion of a person’s total genetic risk. Second, environmental risk factors are also important and likely multiply the risks associated with genetic factors. A genetic risk score alone can give a misleading picture of your actual disease risk.

They can be inaccurate

There are questions about the accuracy of the genetic scores. Scores are calculated using past research into genetic associations with a particular condition. That is the gene variants that are more commonly seen in people with the disease.

But knowing what gene variants are more common in people with a disease is different from knowing what gene variants will predict that someone without the disease will get it later in life. While more research is needed to develop genetic tests that are useful for predicting complex chronic diseases, some companies are forging ahead with genetic risk products of doubtful accuracy.

Companies marketing genetic risk scores might use their own specific formula drawing on different published data to generate the risk predictions they return to their consumers. This means that one person could submit their samples to multiple companies and have different – and sometimes conflicting – results returned to them.

Some consumers of genetic ancestry tests know this well, as results from the same company drastically change when they update their formulas.

In rare cases, the results of genetic testing can be plain wrong, with distressing consequences. One woman had her breasts surgically removed to reduce her risk of breast cancer after receiving a genetic test result that turned out to be incorrect.

In addition, the jury is still out on whether knowing you are at an increased genetic risk for something will lead to a decrease in your risk of developing the condition. There is evidence from research on depression, for example, that suggests knowing you are genetically at risk may hinder rather than help recovery.

Testing could increase health disparities

Even if the predictive power of a particular genetic risk score is beyond doubt, it may only be accurate for a minority of the population who have only European ancestors.

About 80% of the data used to derive the scores have come from studies of people of European descent (who account for only 16% of the world’s population).

So these scores might be less accurate for people from other backgrounds. If these new tools are applied to improve health for people of European ancestry, they could increase health disparities.
The ethics of ‘designer babies’

All these issues are compounded if the person buying the test is a prospective parent seeking to select an embryo for implantation.

Within the clinical setting, pre-implantation genetic testing – used in tandem with IVF – can help parents who want to ensure their future child does not develop a serious genetic disease that runs in their family. But some companies are now offering to calculate polygenic risk scores that allow prospective parents to select embryos that have a lower risk score for diabetes, heart disease, cancer, short stature or low intelligence irrespective of the family history.

These products raise serious and wide-ranging scientific and ethical concerns. Researchers have questioned whether selecting embryos based on these tests will produce the outcomes parents might expect. Others have raised broader concerns about the long term effects of embedding inequities in our genes.

National agencies that regulate the use of these emerging technologies will need to tread carefully when considering how polygenic risk scores could be used in embryo selection.

For now, more research is required to improve the accuracy of polygenic risk scores, to assess their appropriate use outside of the clinical setting, and to work out how to best support consumers who may find themselves in an uncertain position.

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