Genomics and Precision Medicine 2021: Progress in Implementation, A Focus on Health Equity, and a New Public Health Initiative
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In this post, we reflect on another eventful year in genomics and precision medicine and review the emerging opportunities for the field to make an impact on population health. We use the annual review published by the National Human Genome Research Institute (NHGRI) along with our own website updates, and blogs as a springboard for this post. As we transition into the new year, we recognize that the impact of genomics and precision medicine is very much a work in progress. We also briefly describe the start of a new five-year public health initiative to integrate human genomics into public health surveillance and research at the Centers for Disease Control and Prevention (CDC).
Here are our selected highlights for 2021.
Steady Progress in Implementation of Genomic medicine
In 2021, the Genomic Medicine Working Group of the National Advisory Council for Human Genome Research of NHGRI identified its ten most significant peer-reviewed studies for 2021. Criteria for inclusion included, among others, the use of genetic information in clinical decision making, demonstration of implementation and impact, generalizability beyond study population, potential impact on practice guidelines and health care delivery, sufficiency of sample size, and broad representativeness of the field of genomic medicine. A summary of the 10 papers is shown in the table below. The articles reflect a range of progress and impact in multiple domains, such as population screening, childhood cancer, noninvasive prenatal testing, use of genomics in acutely ill infants and the utility of electronic health records. The articles also depict challenges in genomic medicine including how to improve classification and reporting of variants of clinical significance and the need for clinical outcomes data.
Genomic Medicine Implementation and Health Equity: A Public Health Priority
A review of our blog posts in 2021 provides a wide range of topics of public health significance including the importance of host genomics in COVID-19, and expansion of the list of CDC tier 1 genomic applications to include hereditary hemochromatosis and hypertrophic cardiomyopathy. Throughout 2021, our office engaged in strategic planning to identify priority actions for genomics and precision medicine.
We also focused on equity as a public health imperative in the implementation of genomics and precision medicine. Access to health services and specialty care, including genetic services, is important for the implementation of genomics and precision medicine and is lower among some racial and ethnic minority groups, rural communities, and people with lower incomes. For example, the use of genetic testing for hereditary breast and ovarian cancer and Lynch syndrome is lower for people in some racial and ethnic minority groups compared with non-Hispanic White people. Even among those who are diagnosed, disparities remain for access to treatments. People with familial hypercholesterolemia who have lower incomes are less likely to start treatment with PCSK9 inhibitors and more likely to have insurance coverage for PCSK9 inhibitors denied. As a result of our planning efforts, we developed a framework for public health action to help ensure that everyone has the opportunity to reap the health benefits of advances in genomics and precision medicine.
A New Year, A New Public Health Initiative in Genomics and Precision Medicine
In October 2021, funding from the CDC Office of Advanced Molecular Detection helped to put our planning efforts into immediate action. A new initiative seeks to strengthen CDC’s capacity to integrate human genomics into public health surveillance and applied research. The initiative will enhance CDC’s ability to identify populations at risk for infectious and chronic diseases, enhance effective prevention efforts, and help guide effective and equitable implementation of human genomic discoveries. The initiative will assess the current landscape of human genomics work at CDC, develop cases of public health use, build the evidence base for public health action, and translate lessons learned into public health practice.
We are currently planning a series of activities including:
- Building DNA specimen and genomic data repositories within the National Nutrition and Health Examination Survey (NHANES), to establish a national genomic profile representative of the United States population and make these data accessible for population-based studies.
- Increasing analytic capacity in genomics and precision medicine surveillance and health services research, to identify health impact and disparities in implementation.
- Supporting exemplar CDC pilot projects in human genomics for infectious and chronic diseases strengthen public health capacity to integrate human genomics in public health surveillance and applied research.
- Promoting health equity in genomics and precision medicine through implementation research and public health programs.
- Enhancing public health workforce capacity and diversity in the human genomics field via new training courses and fellowships, as well as expanded partnerships and community engagement.
In 2022, we will be updating our blog regularly with new information about progress and impact of this new initiative. In the meantime, we wish our readers happy holidays and all the best for a new year!
Genomics and Precision Medicine 2021: Ten Papers Highlighting Progress and Impact of the Field *
| Topic | Paper | Summary |
|---|---|---|
| Population screening | Gusauskas et al | Population screening for hereditary breast and ovarian cancer can be cost-effective, and cost-effectiveness is likely to be improved by cascade testing and including other CDC tier 1 conditions |
| Cancer Genomics | Wong et al. | Implementation of a nation-wide molecular profiling of childhood cancers in Australia led to clinical benefits in many patients |
| Prenatal Testing | van Den Bogaert et al. | A model for universal non-invasive prenatal testing led to reduction of invasive obstetric procedures and more personalized care |
| Laboratory Practice | Amendola et al. | There is classification discordance across laboratories for variants in genes with clinically actionable findings and documented the need for improvement |
| Breast Cancer Susceptibility | BCAC et al. | Beyond BRCA1 and BRCA2, this large study documents seven additional genes that can be used for testing for breast cancer genetic susceptibility |
| Electronic Health Records | Morley et al. | Electronic health record information can be reliably used to predict who should receive a diagnostic genetic test |
| Genomic Sequencing | Dimmock et al. | In acutely ill infants, rapid whole genome sequencing can improve clinical outcomes and is eminently deployable in clinical practice |
| Genomic Analysis For Evaluating Low White Blood Cell Counts in African Americans | Van Driest et al. | Measuring the Duffy antigen genotype can reduce unnecessary bone marrow biopsies in African Americans |
| Genomic Testing in Cardiology Clinics | Murdock et al. | One third of patients seen in ambulatory cardiology clinics have clinically actionable genetic findings |
| Secondary Findings | Sapp et al | In 2021, the American College of Medical Genetics and Genomics expanded the list of clinically actionable variants to be returned to individuals and providers from 59 to 73 genes. Evidence of clinical outcomes and utility requires additional research |
* Source: Manolio et al, American Journal of Human Genetics 2021