Maharshi Patel, BS, MBA

The potential for precision medicine to revolutionize care in the development of new treatments has only just begun. Translating these initial successes (eg, targeted therapies in lung cancer) to a larger scale will require a coordinated and sustained national effort and must include careful attention to the broader public health impact. The lack of inclusion of ethnic minorities and socially disadvantaged population subgroups in this resource-intense era of genomic research and development has the troubling potential to further widen existing health disparities. Given the investment of resources and potential impact on health, it is imperative that future research include diverse populations, moving beyond race to take into consideration ancestry, sociocultural environment, and genomic adaptation. This will ensure that scientific advances are impactful for all population groups by harnessing innovations in precision medicine to help reduce and eventually eliminate health disparities.

Rapid strides in the development of omics (proteomics, genomics, etc) have overshadowed the enormous variation represented by individual ethnicity and race. The data collected, gathered, and analyzed by multiple commercial and other agencies to individualize treatment approaches (defined as personalized medicine) in pursuit of improved outcomes have not kept pace with the fundamental human right of equity in health care access, but rather seem to be driven by privilege.


Precision medicine is “an approach to disease treatment and prevention that seeks to maximize effectiveness by taking into account individual variability in genes, environment, and lifestyle.”

 Its potential to revolutionize care in the development of new treatments has only just begun. Precision medicine gives clinicians tools to better understand the complex biological and environmental mechanisms underlying a patient’s health, disease, or condition, and will enable them to predict which treatments will be most effective. Advances in precision medicine have already led to new discoveries and several new treatments that are tailored to an individual’s specific characteristics, such as one’s genetic makeup or the genetic profile of an individual tumor. These innovations are leading to a transformation in cancer treatment. Because of these advances, patients with breast, lung, or colorectal cancers, as well as melanomas and leukemia, now routinely undergo molecular testing as part of their disease evaluation and treatment management. These efforts enable clinicians to select treatments that can improve survival and reduce possible adverse effects.

The goal of precision medicine is to advance medical and scientific discoveries while offering more tailored, precise, and accurate health interventions, thus maximizing health benefits for patients while reducing adverse effects and overall cost of care.

 With such an approach, individual well-being is monitored proactively; that is, precision medicine is predictive, personalized, preventive, and participatory.

 The defining features and goals of precision medicine appear to make it complementary to the scope of health equity defined by the World Health Organization,

 which states that “ideally everyone should have a fair opportunity to provide patients with preventive and therapeutic interventions based on their individual needs (eg, their susceptibility profile to some diseases),” given the overall continuity of the clinical objectives.

A study by Hinco Jasper Gierman, PhD, and colleagues, showed that despite rapid strides in biomarkerdriven targeted therapies in lung cancer, only 22% of all patients with advanced non–small cell lung cancer have their tissues checked for driver mutations with available FDA-approved treatments (FIGURE).

 This finding is in concurrence with the fact that most community cancer clinics provide care to patients in rural locations. These clinics do not have access to sophisticated clinical trials, adding to health care disparities.

With the promises and premises of improving population health, precision medicine also entails the risk of exacerbating health inequalities, particularly between racial and ethnic minority groups.8 Minority communities frequently face discrimination in health care and receive poor medical treatment across the globe.

Outreach to minority communities—especially in the research field—has also been characterized by a long history of exploitation, abuse, and marginalization.

 The relatively lower participation rate of minority groups in health research is not simply a matter of distrust and unwillingness, but extends far beyond these superficial excuses.

In a review of enrollment decisions of more 

than 70,000 individuals for participation 

in health research, Wendler and colleagues 

showed that willingness to participate did 

not differ significantly between ethnoracial 

groups and argued that underrepresentation of 

minority populations is more likely due to the 

research design of the study or to limited accessibility.

 Aside from its cause, the lower participation 

to most genetic databases used for research 

purposes containing data on participants of 

analysis of genome-wide association studies 

(GWAS) representing 1.7 million samples conducted 

European ancestry. Seven years later, a similar 

GWAS analysis revealed that racial and ethnic 

representativeness of samples still had a long 

way to go. Despite the colossal 35 million samples 

collected, 81% of participants were still of 

European ancestry.12 The fact that racial and ethnic 

minorities are marginalized in the research 

field was also underscored by the authors, who 

concluded that “the message being broadcast by 

the scientific and medical genomics community 

to the rest of the world is currently a harmful 

and misleading one: the genomes of European 

improve the quality of health care by allowing 

practitioners to tailor prevention, diagnostic, 

and treatment strategies to individual patients.

In recent years, research breakthroughs, 

technological advances, and the decreasing 

cost of DNA sequencing have led to the wider 

adoption of genomic medicine. However, as 

with the introduction of new technologies into 

health care, there are concerns that genetic and 

genomic testing and services will not reach all 

segments of the population, both now and in the 

near future, and there remains a knowledge gap 

about potential health care disparities in precision 

Two of the major obstacles to accessing genetic 

testing and the corresponding downstream care 

are the potential for high out-of-pocket costs to 

patients and a primary care workforce that may 

be unprepared to deliver genomic medicine to 

patients. In addressing these challenges, it may 

be useful to explore how public and private 

payers design health insurance benefits and 

make decisions regarding the reimbursement 

of genetic testing and counseling, which could 

point to ways to help lessen any disparities 

in access to genomic medicine. To begin with, 

making genetic and genomic services accessible 

and operational in all practice settings, 

including clinics that are under-resourced 

and serve diverse patient populations, may 

help avoid worsening health care disparities. 

Another issue is poor communication between 

health care providers and the community, 

which creates barriers and can contribute to 

a fear of genetic and genomic testing among 

patients who lack awareness about this aspect 

of medicine. Other potential solutions include 

providing better access to reliable patient and 

provider educational materials at the point 

of care and developing continuing education 

programs for community oncology clinics to 

Disparities in access to genomic medicine is 

a profoundly complex issue that affects many 

populations, including rural communities, 

underrepresented minorities, medically underserved 

Structural racism has been deeply entrenched 

in society for centuries. It would be näive to 

believe that its impact would not spill over into 

the field of precision medicine. Those undertaking 

precision medicine initiatives around the 

world should pay attention to the impact that 

structural racism could have on their respective 

projects, as already demonstrated by the rate 

of genomic testing between different ethnic 

Those involved with precision medicine initiatives 

must embrace the responsibility to mitigate 

the described effects of structural racism, 

especially those over which they have direct 

control. Therefore, they should give careful consideration 

in their projects to limit racial biases.

Physicians, investigators, and technology 

developers need to be better informed about the 

detrimental and insidious impact of structural 

racism on their activities. Specific biobanks 

and other research databanks targeted for 

minority groups should be encouraged, with the 

mandatory inclusion of members of these communities 

that scientific discoveries are steered toward 

improving or finding new treatment for diseases 

affecting predominantly minority groups (eg, 

through community-based research). Although 

not falling directly under the control of those 

who direct precision medicine initiatives, 

encouraging and lobbying for the adequate representation 

professions is important to improve the quality 

of health data collected for minority groups and 

reduce health care inequalities between racial 

Only by openly acknowledging and discussing 

the existence of implicit racial biases and trust 

issues in the health care and research domains 

can proper interventions be implemented against 

structural racism that limits access to appropriate 

improve outcomes, reduce toxicity, and reduce 

the overall cost of care. Precision medicine could 

offer a unique opportunity to bridge some of 

the long-standing racial gaps in health care and 

research. However, it would require the deleterious 

impacts of structural racism to be accepted 

as fact, carefully considered, and addressed by all 

those involved in health care. The following steps—if 

undertaken by laboratories, the pharmaceutical 

industry, contract research organizations, the 

National Institutes of Health, and the FDA to bring 

clinical studies involving genomic analysis and 

just-in-time trials to oncologists serving underprivileged 

and underrepresented minority communities— 

could address disparities and convert threats 

of worsening outcomes by the selective implementation 

Provide access to clinical trials studying 

cancer genomics to small community cancer 

Establish longitudinal database registries 

data, comorbidities and risk factors, and 

nutritional history) once mutations (either 

by liquid or tissue biopsies) are identified

Establish biorepositories and registries 

that addresses mutations unique to these 

Set up population-based research projects 

that track longitudinal patterns of disease 

diverse populations versus transactional 

Set up financial support programs to carry 

out appropriate testing to address financial 

toxicity concerns that cause barriers in the 

1. Paradies Y. A systematic review of empirical research on self-reported racism and health. 

. 2006;35(4):888-901. doi:10.1093/ije/dyl056

2. The Precision Medicine Initiative Cohort Program–building a research foundation for 21st century medicine. National Institutes of Health. September 17, 2015. Accessed October 7, 2020. https://bit.ly/33RlmI1

3. Aronson SJ, Rehm HL. Building the foundation for genomics in precision medicine.  

. 2015;526(7573):336-342. doi:10.1038/nature15816

4. Collins FS, Varmus H. A new initiative on precision medicine. 

. 2015;372(9):793-795. doi:10.1056/NEJMp1500523

5. Ashley EA. Towards precision medicine. 

. 2016;17(9):507-522. doi:10.1038/nrg.2016.86

6. Gierman HJ, Goldfarb S, Labrador M, et al. Genomic testing and treatment landscape in patients with advanced non-small cell lung cancer (aNSCLC) using real-world data from community oncology practices. 

. 2019;37(suppl 15):1585. doi:10.1200/JCO.2019.37.15_suppl.1585

7. Hood L, Flores M. A personal view on systems medicine and the emergence of proactive P4 medicine: predictive, preventive, personalized and participatory. 

. 2012;29(6):613-624. doi:10.1016/j.nbt.2012.03.004

8. Health equity. World Health Organization. Accessed October 7, 2020. https://bit.ly/34QEiG8

9. Ginsburg GS, Phillips KA. Precision medicine: from science to value. Health Aff (Millwood). 2018;37(5):694-701. doi:10.1377/hlthaff.2017.1624

10. Bhopal RS. Racism in health and health care in Europe: reality or mirage? 

. 2007;17(3):238-241. doi:10.1093/eurpub/ckm039

11. Cohn EG, Henderson GE, Appelbaum PS. Distributive justice, diversity, and inclusion in precision medicine: what will success look like? 

. 2017;19(2):157-159. doi:10.1038/gim.2016.92

12. Wendler D, Kington R, Madans J, et al. Are racial and ethnic minorities less willing to participate in health research?  

. 2006;3(2):e19. doi:10.1371/journal.pmed.0030019

13. Gamble VN. Under the shadow of Tuskegee: African Americans and health care. 

. 1997;87(11):1773-1778. doi:10.2105/ajph.87.11.1773

14. Mersha TB, Abebe T. Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities. 

. 2015;9(1):1. doi:10.1186/s40246-014-0023-x

15. Popejoy AB, Fullerton SM. Genomics is failing on diversity. 

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16. Genomics and medicine. National Human Genome Research Institute. Updated October 6, 2020. Accessed October 7, 2020. https://bit.ly/3iYtJ8W

17. Geneviève LD, Martani A, Shaw D, Elger BS, Wangmo T. Structural racism in precision medicine: leaving no one behind. 

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Articles

Despite Advances in Precision Medicine, Disparities Persist

The crisis of coronavirus disease 2019, also known as COVID-19, presents a set of unprecedented circumstances to the health care community. The disease has a particular impact on patients with cancer and their oncology care teams who are trying to maintain the right balance between the use of immunosuppressive treatment and risk of cancer progression. Wenhua Liang, PhD, and colleagues analyzed the risk for severe COVID-19 in patients with cancer.1 They reported that patients with cancer might have a higher risk of COVID-19 than individuals without cancer. They emphasized that patients with malignancy had poorer outcomes from COVID-19, providing a timely reminder to physicians that more intensive attention should be paid to patients with cancer to prioritize treatment versus risk of death and adverse outcomes. Patients who underwent chemotherapy or surgery in the past month had a numerically higher risk (3 of 4 patients [75%]) of clinically severe events than did those not undergoing chemotherapy or surgery, observed by logistic regression (odds ratio, 5.34; 95% CI, 1.80-16.18; 

 = .0026) after adjusting for other risk factors, including age, smoking history, and other comorbidities. 

The authors of this study have proposed 3 major strategies for treating patients with cancer in the COVID-19 crisis. The first approach is an intentional postponing of adjuvant chemotherapy or elective surgery for stable cancer in endemic areas. Second, stronger personal protection provisions should be made for patients with cancer or cancer survivors. Third, more intensive surveillance or treatment should be considered when patients with cancer are infected with COVID-19, especially in older individuals or those with other comorbidities.

Oncologists and institutions caring for these patients face the continued challenges of administering treatment while simultaneously reducing the risk of complications in the event they end up contracting COVID-19. Stopping chemotherapy may be an option for patients in complete remission on maintenance therapy. In those patients, we may be able to switch chemotherapy from intravenous to oral therapies. This change would decrease the frequency of clinic visits. A chemotherapy break may be an option when feasible. Delays or modifying adjuvant treatment may be balanced with the risk of recurrence. The prophylactic growth factors and antibiotics in high-risk chemotherapy regimens is of paramount importance. When the absolute benefit of adjuvant chemotherapy may be quite small, and if non-immunosuppressive options are available (eg, hormonal therapy in estrogen receptorpositive early-stage breast cancer), risk of COVID-19 infection may be considered as an additional factor in weighing the patient’s available treatment options.

Providers caring for patients with cancer undergoing cytotoxic chemotherapy need to consider changing their treatment plan when feasible to reduce the risk of life-threatening complications as well as reducing the frequency of their clinic visits. Targeted therapies are approved for a number of aggressive cancers from non–small cell lung cancer, stage IV melanoma, to acute myeloid and lymphoid leukemia. These therapeutic options offer an opportunity to consider treatment of patients with the likelihood of a better response while at the same time increasing dose density and intensity without raising the toxicity profile.

Precision medicine–guided targeted therapies as well as immunotherapy may have a special role in identifying patients who may need cancer treatment. Most targeted agents are orally administered. The toxicity and adverse event profiles of many orally administered targeted therapies is significantly different from chemotherapy. A much higher complication rate from cytotoxic chemotherapy places patients with cancer at a much higher risk of complications from COVID-19 infection. Rigorous biomarker testing and appropriate therapeutic choice should be considered in this patient population, especially in the face of a global pandemic.

Assessing Cancer by Treatment Priority Determination: Top, Intermediate, and Low Priority

Instead of an arbitrary approach, a system to determine the priority for consultation and treatment of patients with cancer may provide a consistent approach for all patients and providers (

 It is also important to avoid, as much as possible, having different levels of care. We recommend following an “assessment for patients with cancer and treatment priority determination” that would assist cancer clinics and decision makers in the management of these patients. Given the dynamic situation, it is likely that this will vary from day to day, and daily accommodation reassessment may be required. The patient priority assessment and classification would allow flexibility determined by the local circumstances and available resources. The local or regional circumstances and the availability of resources may influence a cancer clinic’s ability to follow the criteria.

This virus was previously referred to as novel betacoronavirus severe acute respiratory syndrome virus coronavirus 2 (SARS-CoV-2).

 What started in early December 2019 with 3 patients diagnosed with unexplained pneumonia in the Wuhan province of China has led to a global pandemic. At the time this article was written, more than 3 million cases have been reported and 207,973 deaths across Europe, the Americas, Western Pacific, Eastern Mediterranean, Southeast Asia, and Africa are attributed to the disease.

 The United States alone has 1,005,147 cases and 57,505 deaths.

In March 2020, the World Health Organization declared COVID-19, caused by SARS-CoV-2, a public health emergency of international magnitude and a global pandemic.

 According to the World Health Organization, the definition of pandemic is a worldwide spread of a new disease for which most people do not have immunity.

A sudden surge in the cases of COVID-19 due to the pandemic, along with efforts to contain it, has led to multiple challenges that no country has experienced in the last several decades. The global pandemic from COVID-19 poses a unique set of challenges not only for patients with cancer who need their treatment, but also for caregivers, oncologists, and the overall care team. It is recognized that there is a need to treat patients with cancer during a pandemic, due to their immunocompromised state from the nature of their disease or type of treatment they are receiving. Further, it is of paramount importance that the oncology care team develop and evolve a systemic approach that prioritizes patients, disease, and types of treatment. So far, the efforts of organizations and individual oncologists are being rapidly outpaced by the increasing number of patients with COVID-19. It is likely that this will be a dynamic situation that will vary each day.

Deaths from COVID-19 have been caused by multiple organ dysfunction. This observation might be attributable to the widespread distribution of angiotensin-converting enzyme 2—the functional receptor for SARS-CoV-2—in multiple organs.

 Patients with cancer are more susceptible to infection than individuals without cancer because of their malignancy and anticancer treatments, such as chemotherapy.

 These patients might be at increased risk of COVID-19 and have a poorer prognosis. 

Rapid growth in the number of patients with COVID-19 symptoms has led to capacity pressures to the health care system on a local, regional, and national level. Cancer clinics and hospital inpatient and outpatient areas have started experiencing capacity challenges. Patients with cancer are faced with difficult decisions and anxieties related to the risks of treatment versus exposure and increased risk of contracting COVID-19. It is expected that the COVID-19 global pandemic will hit in 1 or more waves. At the peak of the COVID-19 wave, a significant portion of hospital or clinic staff will be ill or unavailable to work (eg, due to school closures, family obligations, fear, disease, illness, etc.

"We recommend  following an assessment for patients with cancer and treatment priority determination that would assist in the management of these patients."

Maharshi Patel, BS, MBA | Authors

Articles

Despite Advances in Precision Medicine, Disparities Persist

COVID-19 Presents an Opportunity for Precision Medicine to Play Expanded Role in Care