Genomic Screenings

Part
01
of four
Part
01

Genomic Medicine: Market Overview

At least 15 countries are exploring/adopting the use of genomic medicine. They have launched national genomic medicine initiatives such as genomes collecting/sequencing programs, graduate programs in genomic medicine, genomic medicine research, and others.

Asia-Pacific

Australia

China

Japan

  • The Japan Agency for Medical Research and Development has launched the Japan Genomic Medicine Program to promote research to realize "genomic medicine and create next-generation precision medicine."
  • It has launched the Tohoku Medical Megabank Project and separate initiatives to promote genome medicine, create an integrated database of clinical and genomic information, and promote genomics-based drug discovery.
  • In December 2019, the Japanese government announced plans to perform full-genome analysis on samples collected from 93,000 people.

Europe

Denmark

  • GenomeDenmark was established to provide a "platform with research infrastructure to develop know-how, advance national coordination, and create synergy within the field of genomics" across medicine and other healthcare sectors.
  • Healthcare Denmark has launched the Danish National Strategy for Personalized Medicine to support the "use of genomic data to offer patients more targeted and efficient medicine."
  • The FarGen project was created to map Faroese genes and "enable improvements in the prevention and treatment of medical conditions" in the population.

Estonia

  • In April 2018, the Ministry of Social Affairs, the National Institute for Health Development, and the Estonian Genome Center of the University of Tartu launched the Estonian Genome Project to collect 100,000 genomes as part of the National Personalized Medicine program.
  • The goal of the project is to develop the country's healthcare system by offering residents "genome-wide genotyping that will be translated into personalized reports for use in everyday medical practice through the national e-health portal."
  • In December 2018, the government announced that it would provide more funding for the project to collect additional 50,000 samples.

Finland

France

Netherlands

  • RADICON-NL is a consortium consisted of academic genetic centers, non-academic Neonatal intensive care units, and patient organizations.
  • The consortium has launched a project to determine the "added value of whole genome sequencing as a first-tier genetic test in the care pathway of patients with a rare genetic disease."
  • Whole genome sequencing is the process of "determining the complete DNA sequence of an individual to identify the cause of disease."

Switzerland

United Kingdom

  • Genomics England was set up in 2013 to deliver the 100,000 Genomes Project and met its target in 2018.
  • The National Health Service launched the Genomic Medicine Service in 2019 to provide "equitable access to genomic testing to patients."
  • The United Kingdom was the first nation in the world to "apply whole genome sequencing at scale in direct healthcare, as well as providing access to high quality de-identified clinical and genomic data for research aimed at improving patient outcomes."

The Middle East

Qatar

Saudi Arabia

Turkey

  • The Health Institutes of Turkey (TÜSEB) launch the Turkish Genome Project in 2017.
  • The program was created to map out the population's "genetic structure and finding out reasons behind the prevalence of chronic diseases such as cancer, or reasons behind longevity in a certain population group."
  • The organization plans to sequence 100,000 genomes by 2020 and 1 million genomes by 2023.

The Americas

Brazil

United States

Research Strategy

The global genomic medicine market size and expected growth rate are not publicly available. The required information are only available behind a paywall. The global genomic market size ($17.67 billion in 2018) and CAGR (13.34% from 2019 to 2026) could be identified. However, the report did not provide a breakdown specifically for the medicine field.
Part
02
of four
Part
02

Genomic Medicine: Consumer Perceptions

Consumer perception of genomic medicine revolves mainly around genomic medicine interventions being beneficial, genomic information being key to understanding persistent health problems, genomic information uncovering future health risks, genomic medicine offering hope, and genomic medicine possibly compromising privacy.

Genomic Medicine Interventions are Beneficial

  • Most consumers and genomic medicine patients find genomic medicine interventions beneficial. However, a few genomic medicine patients change their mind post intervention.
  • A recent survey of patients before and after genomic medicine intervention revealed that prior genomic medicine intervention, 87.0% of patients agreed or strongly agreed that the genomic medicine intervention would be beneficial. Only 2.3% disagreed or strongly disagreed.
  • After the genomic medicine intervention, however, there was a slight drop in the percentage of patients who agreed or strongly agreed that the genomic medicine intervention was beneficial. From 87.0%, the percentage dropped to 84.9%. The percentage of patients who disagreed or strongly disagreed increased to 4.2%.
  • In one study, it was mentioned that patients and consumers have a positive perception of genomic data.
  • Another statistic, though specific to genetics research, also supports this finding. Seventy-seven percent of American adults believe that genetics research is crucial to the improvement of their families’ health.

Genomic Information is Key to Understanding Persistent Health Problems

  • More and more consumers are taking interest in genomic medicine. The number of patients inquiring about genomic tests is increasing as well.
  • Patients have become curious about both consumer-based and clinical-based genomic tools.
  • Most healthcare consumers hold the opinion that genomic information can help them decipher their persistent health issues.
  • Their interest in genomic medicine has considerably grown, thanks to the proliferation of inexpensive genomic tests and their belief that precision medicine is the key to solving every health problem.
  • Precision medicine involves the study of the genome, “a genetic understanding of the disease,” and an understanding of the patient’s lifestyle and family health history. A third of American adults are familiar with precision medicine.
  • Precision medicine is a topic discussed alongside personalized medicine and genomics.

Genomic Information Can Reveal Future Health Risks

  • Most consumers think that genomic information can uncover future health risks.
  • The positive view of genomic medicine is largely dependent on how genomic medicine is applied. Genomic tests that are used to detect, prevent, or treat disease and are succeeded by clinical action are perceived favorably, while genomic tests that are used for cosmetic applications, gender selection, and IQ screening are not.

Genomic Medicine Offers Hope

  • The finding that around 53% of American adults are “hopeful about human genetics research” suggests that a large percentage of American adults are likely hopeful as well about genomic medicine. Genomic medicine is often mentioned alongside genetics research.
  • Hopeful’ is the second word after ‘curious’ that best reflects American adults’ attitudes toward genetics research. It is followed by the following words: amazed (42%), optimistic (42%), cautious (38%), open (30%), and excited (28%).
  • Fifty-nine percent of American adults say ‘curious’ is the word that best reflects their perception of genetics research.
  • Fewer American adults are concerned, hesitant, engaged, skeptical, worried, confused, or pessimistic.
  • American adults are optimistic about several possibilities. Seventy-one percent of American adults, for example, are hopeful that their doctors will have access to their genetic makeup.
  • Seventy-eight percent of American adults are hopeful that genetics will help researchers find cures for diseases such as Alzheimer’s and cancer.
  • Additionally, 60% of American adults are hopeful that genetics will lead to the prevention of severe diseases such as cystic fibrosis, muscular dystrophy, and sickle cell disease.

Genomic Medicine May Compromise Privacy

Key Concepts and Words

  • Based on the preceding findings, the key concepts and words that seem to resonate the most with consumers when they think about genomic medicine are the following:
  • Genomic medicine is instrumental in the detection, prevention, and treatment of disease.
  • Genomic medicine enables personalized and precision medicine.
  • Genomic medicine should not be used in the screening or selection of characteristics such as gender, IQ, and appearance.
  • Genomic medicine offers hope and has a lot of potential.
  • Genomic medicine should not compromise consumer privacy.
Part
03
of four
Part
03

Genomic Medicine: Physician Perceptions

Despite their high opinions for the use of genetic testing and genomics in medicine, studies suggest that US physicians' motivation towards the use of genomic medicine is tied to their ability to surmount their ill-preparedness to handle the different aspects of genetic and genomic testing. This challenge is caused by a lack of formal education of physicians on the subject. However, more formal education on genomic medicine and exposure to personal genetic testing would make physicians develop more positive attitudes and comfort/confidence in genomic medicine.

Challenges

  • According to a study, while 67% of primary care physicians consider genetic testing and genomics to be of high importance in medicine, they lack the knowledge or confidence to utilize them in practice.
  • The majority of the physicians surveyed perceive time constraints to counsel patients about genetic risk as well as patient comprehension as barriers to adoption.
  • Another study showed that "even in diagnostic odyssey cases, in which genome sequencing may be clinically beneficial, physicians may not be well-equipped to communicate genomic information to patients."
  • Despite the increasing use of genetic and genomic technologies in medical practice, many physicians in the US feel ill-prepared to handle the different aspects of genetic and genomic testing, which include "ordering genetic tests, using the genetic test results," and explaining genetic test results to patients. This ill-preparedness is a consequence of the lack of education and training in genetics and genomics caused by the failure of medical curricula to keep abreast of genomic advances and integrate them into clinical settings.
  • In a 23andMe-funded study involving physicians, 62% said they had not been formally educated in genomic medicine or the use of genetic information to make individualized risk predictions and treatment decisions. As such, while they were very comfortable discussing risk factors associated with common diseases such as environmental, race/ethnicity, and health status, except genetics.

Motivation

  • The 23andMe-funded study found that efforts to increase the familiarity of primary care physicians with personal genetic testing (PGT) through participatory learning, led to more positive attitudes and comfort/confidence in genomic medicine.
  • Specifically, these physicians became more interested in direct-to-consumer (DTC) genetic testing and more inclined to recommend testing to interested patients. They felt more equipped to communicate patient results and more inclined to participate in genomic medicine-related educational activities such as research and conferences in the following 12 months.
  • Physicians (particularly those who got their medical degrees before 2007) who aren't exposed to genetics may find it difficult to recognize the benefits of taking genetic-based continuous education programs, and thus will not seek such programs out. As such, "more exposure to genetics during medical school and residency programs" will help improve physician’s perceptions of genomic medicine.

Research Strategy

Due to a scarcity of relevant and recent studies specific to physicians in the US, we have included a study published in 2015. We considered it relevant since its findings correlate with the findings from more recent publications.
Part
04
of four
Part
04

Genomic Medicine: NGS Vs. Microarray

Studies and academic research papers published within the past 5 years discussed and compare the use of microarrays and next-generation sequencing technologies in diagnosing autism, as well as evaluating cancer genomes. One research also compared the speed and cost-effectiveness of these methods when used in clinical settings. Presented below are the key takeaways from these studies and how these findings changed over time.

"Heterogeneity in Clinical Sequencing Tests Marketed for Autism Spectrum Disorders"

  • It discussed that chromosomal microarray is used as the first-tier genetic test while next-generation sequencing (NGS) is used as a confirmatory test to diagnose autism spectrum disorder (ASD) by determining genomic risk variants.
Key Takeaways
  • When this research was published, the current first-tier genetic test recommended for ASD was a chromosomal microarray that reveals duplicated and deleted segments of DNA accounting for 5-25% of all ASD cases.
  • When NGS was introduced, a more in-depth understanding of ASD's genetic landscape is achieved. This technology can be used in targeting specific genes of interest when testing for genomic risk factors.
  • When explanations for the clinical presentation were not revealed using chromosomal microarray analysis, sequencing approaches are then used as second-tier tests for ASD.
  • NGS tests for ASD were mostly being used as a confirmatory test and the research highlighted the need for the development of a clinically-validated list of genes that can be used for ASD laboratory analysis.
Changes Over Time
  • Research published by ResearchGate, updated February 26, 2020, discussed how the use of NGS helped them in determining the modes of transmission or inheritance of ASD, the nature of genetic risk factors that contributes to autism, and why the prevalence of autism in males is higher than in females.
  • Through the advancement and the wider use of NGS, scientists can now gain access to a higher number of single nucleotide polymorphisms (SNPs) or the tightly-spaced genetic markers.

"The Genomic Era of Clinical Oncology: Integrated Genomic Analysis for Precision Cancer Care"

  • This research was published online by Karger on December 22, 2016.
  • It discussed the importance of NGS and chromosomal microarray analysis (CMA) technologies as new tools used for the evaluation of cancer genomes, as well as their limitations.
Key Takeaways
  • Compared to the traditional cytogenetic analysis, microarray methodologies have major advantages such as the high-resolution data it provides that enables the discovery and assessment of the characteristics of copy number variants (CNVs) for any type or subtypes of cancers.
  • One of the significant advantages of NGS in cancer genomics is its ability to produce high throughput. It can sequence multiple genes, identify a wide variety of genomic alterations like indels, CNVs, and single-nucleotide variants (SNVs) at the same time.
  • Limitations: CMA is not capable of detecting genetic events. On the other hand, the data provided by NGS is extremely complex, limiting the use of the technology to "highly trained molecular geneticists and pathologists".
Changes Over Time
  • In a November 2019 research published by ScienceDirect, NGS-based genetic testings were noted to have a great promise to become a first-tier genetic testing tool in the future because of the many options it can provide in diagnosing rare disorders associated with genetic variants, including cancer.
  • Due to the various steps of NGS-based diagnosis, artificial intelligence (AI) is seen to have an important role in improving its accuracy and variant prediction, and enhancing the electronic health record systems' physician-friendliness.

"Advantages of Array-Based Technologies for Pre-Emptive Pharmacogenomics Testing"

  • This research was published in the National Center for Biotechnology Information (NCBI) website on May 28, 2016.
  • It discussed and compared the advantages of using microarray and NGS technologies in clinical genetic diagnoses. The research concluded that in pharmacogenomics profiling of a large number of people, microarray technology is considered more advantageous over NGS when it comes to cost-effectiveness, ease of interpretation and analysis, and data storage logistics.
Key Takeaways
  • Microarray technology provides a fast and inexpensive means of recognizing large numbers of genomic variants in clinical and experimental settings.
  • Microarrays remain to be the "technology of choice" when it comes to applications that require cost-effective genomic screening of variants for large-sized samples.
  • NGS techniques are valuable for "screening a restricted set of genes for known or novel mutations". However, it can generate a high number of false positive or false negative errors due to simultaneous readings. Therefore, it might require additional validation for safer use. The excessive and inappropriate use of NGS may waste resources and research funds.
Changes Over Time
  • According to an April 9, 2020 press release of MarketWatch, the global NGS market was projected to exceed $16 billion by 2024 with a compound annual growth rate (CAGR) of more than 20%.
  • It was noted that NGS today, having a different range of new sequencing technology, offers a low priced yet high throughput opportunity for DNA sequencing.
  • The major factors driving its growth include the rising prevalence of cancer, the increasing market competition among prominent entities, and the "decreasing price" of genetic sequencing.
Sources
Sources

From Part 01