Hirangi Mukhi, BS

Precision Medicine (PM) is “an approach to disease prevention and treatment that seeks to maximize effectiveness by considering individual variability in genes, environment, and lifestyle,” according to the Precision Medicine Initiative (PMI).

 After former President Obama announced the PMI in his State of the Union address on January 20, 2015—“to bring us closer to curing diseases like cancer and diabetes and to give all of us access to the personalized information we need to keep ourselves and our families healthier”—the National Health Institute and other global agencies commenced a group under the PMI called the PMI Cohort Program.

The goal of PM is to advance medical and scientific discoveries to offer more tailored, precise, and accurate health interventions to maximize the health benefits for patients.

 Essential components of PM include the integration of information from several different sources, including genetic and genomic profiles, imaging data, records from wearable health-tracking devices and lifestyle choices, germline data, and pharmacogenomics. The access and application of these data and associated bioinformatics, using computing power and technological expertise to translate PM into personalized health care, are key.

For community practices, using PM will be greatly beneficial to patients and the practice. To maximize these benefits, PM needs to be integrated into the fabric of the community setting. All professionals in a practice will have to be involved in the development of a PM system, including physicians, pharmacists, lab personnel, nurses, and the patients. Although there have been obstacles to implementing diagnostic and screening tests, these can be overcome and will provide more options for patients with cancer.

Next-generation sequencing (NGS), which is rapidly replacing Sanger sequencing, has matured enough as a technology and found its place both in clinical practice and research. In addition, whole exome sequencing (WES) and/or whole genome sequencing (WGS) are becoming part of daily operation for oncologists and hematologists for exploring clinical trials and drug development for malignancies. The cost efficiency of NGS has improved significantly due to technological, scientific, and operational advances. The cost of deciphering the entire human genome has dropped from $10,000 in 2011 to approximately $1000 in 2021.

 Other drivers of PM include more accurate sequencing, a growing number of targeted therapies, and the recognition of biodiversity in the human genome— especially in oncology and rheumatic illnesses.

Even in monetary aspects, the global market for PM is growing rapidly. Market research estimated the 2016 global market at $44 billion in revenue, and this revenue is forecast to more than triple to $140 billion by 2026.

The rapid strides in sequencing techniques, bioinformatics, and PM have not been matched with efforts of implementation in day-to-day practice. Factors like integration into practice guidelines, lack of consensus and standardization between different stakeholders regarding minimum number of mutational analysis, germline studies, platforms for testing, and payer coverage threaten realization of PM.

In addition to factors mentioned above, the biggest challenge for success in PM adoption is lack of diversity in the knowledge of genomics and bioinformatics in research and studies. Minority communities often face discrimination in health care and receive poor medical treatment.

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

 Although hesitancy from ethnic minorities is frequently cited as an excuse for the lack of representative data in PM and clinical trials, real-life observation is somewhat different, with researchers observing that willingness to participate did not differ significantly between ethno-racial groups.

 They also argued that underrepresentation of minority populations is more likely due to the research design of the study or limited accessibility.

Results from genome-wide association studies (GWAS) representing 1.7 million samples conducted in 2009 showed that 96% of participants were of European ancestry. Seven years later, the same GWAS analysis revealed that despite the colossal 35 million samples collected, 81% of participants were still of European ancestry. Clearly, racial and ethnic diversity of the samples still had a long way to go.10 The successful implementation of PM requires the clinical integration of the following (FIGURE 1):

Molecular testing of patients for actionable mutations

Interpretation of molecular profiling results and identification of matched therapies

Identification of patients for clinical trials

The creation of a longitudinal journey to understand pharmacogenomics

Equitable access to genomic and genetic as well as treatment data

With so many testing options, including NGS, WES, WGS, and whole transcriptome sequencing, healthcare providers now face a complex decision: whether to outsource this testing to centralized laboratories, implement it in their own labs, or create a hybrid model bringing part of the testing in house and using tertiary labs with full bioinformatics and sophisticated testing for thousands of genes for support. With the advent of NGS panels, genomic profiling has become leaner, cheaper, and more user friendly. Everything is quicker in house, with much less chance of losing important material or information. One of the best arguments for in-house genomic profiling is the control it affords over the preanalytical parameters, tissue specimen selection, and sample quality.

For many community oncologists, the latter option to create a collaborative model may enhance the uptake of appropriate molecular testing and address an unmet need, as most of the underserved, marginalized population is served by small- to medium-sized community cancer clinics. We must focus on doing those routine tests quickly, cost effectively, and as locally as possible in collaboration with tertiary labs that have additional testing capabilities and bioinformatics.

Additionally, centralized testing in a collaborative model is another very valuable option. When an FDA-approved treatment option is not available based on local minipanel testing results, additional testing with a much larger panel may provide options for clinical trials for new drug development. This testing may also identify germline mutations, such as BRCA1/2 or other homologous repair defects, and identify other family members at risk. This would allow others to implement appropriate clinical interventions to monitor their risk for disease. A bioinformatics platform will enhance assimilation of genomic, pharmacogenomics, and germline data to create a longitudinal journey and ultimately bring health care equity, address disparities, and enhance new drug developments. Benefits of insourcing NGS include the following (FIGURE 2):

In summary, even though the field of PM is still evolving and changing, driver mutation and biomarker-guided therapies have already improved treatment options for thousands of patients with cancer and thousands more are eligible for clinical trials. Because of limitations in access to overall testing, limited uptake of testing—at the most, 25% in non–small cell lung cancer in Caucasians and 14% in ethnic minorities—and skewed data disproportionately representative of Caucasians, the success of PM is not likely to be accomplished unless we explore different ways to approach testing. These include:

Making widespread testing accessible locally;

Improving access to testing for minorities;

Performing additional testing at tertiary centers when an actionable mutation is not identified; and

Adding germline testing (if NGS panel only includes somatic testing)

1. National Institutes of Health. The Precision Medicine Initiative Cohort Program —building a research foundation for 21st century medicine. September 17, 2015. Accessed April 19, 2021. https://bit.ly/2S4v8mF

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3. Ashley EA. Towards precision medicine. 

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4. Thermo Fisher Ion 520 DNA sequencing chip comparison and cost analysis report. ResearchAndMarkets.com. News release. February 9, 2018. Accessed April 27, 2021. https://bit.ly/3vimZcC 

5. Global precision medicine market to reach $141.70 billion by 2026, reports BIS Research. BIS Research. News release. December 15, 2017. Accessed April 18, 2021. https://prn.to/3sYEwF6 

6. Sholl LM, Aisner DL, Varella-Garcia M, et al; LCMC Investigators. Multi-institutional oncogenic driver mutation analysis in lung adenocarcinoma: the lung cancer mutation consortium experience. 

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

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

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Articles

The goal of precision medicine is to advance medical and scientific discoveries to offer more tailored, precise, and accurate health interventions to maximize the health benefits for patients.

The Role of In-Office Next Generation Sequencing to Advance Precision Medicine in Community Oncology

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.  

Hirangi Mukhi, BS | Authors

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