- Email: [email protected]
Importance of Effective Regulation for the Chinese Genetic Testing Industry
TIBTEC 1887 No. of Pages 3
Trends in Biotechnology
Science & Society Report, global cancer cases will have increased from 14 million in 2012 to 19 million in 2025 and 24 million in 2035 [8]. Advanced sequencing and detection technology, efficient information analysis, and rich biological resources are key factors for enterprise growth in the field of 1,5 2,5 Xiaoqin Liu, Linzhe Jiang, tumor gene detection. By 2025, the 3, Hongyan Wang, * and market size of tumor gene sequencing Chunyang Jiang 4,* in China is estimated to be 7 billion US dollars (http://www.chinadaily.com.cn/a/201908/ 19/WS5d59f3aca310cf3e355666ba.html). The genetic testing industry is In addition to tumor diagnosis and treatprogressing rapidly. In particular, ment, genetic testing technology has the demand of patients with tumors been applied widely in the field of reproducfor diagnosis, treatment, and testing tive health, and genetic testing products in drives genetic testing to develop fur- this field have gradually advanced. As gether. Simultaneously, the potential netic testing technology develops further, risks of genetic testing cause severe the penetration rate of genetic testing serchallenges to regulatory depart- vices in reproductive health research will inments. In China, a targeted, clear, crease. For all of these reasons, the genetic testing industry has great development and unified management model potential.
Importance of Effective Regulation for the Chinese Genetic Testing Industry
remains absent.
Rapid Development of the Genetic Testing Industry
In recent years, thanks to strong market demand, the genetic testing industry has progressed more rapidly than before. In particular, the demand of patients with tumors for diagnosis, treatment, and testing continues to increase rapidly, driving the demand for genetic testing to develop further. Developed countries, such as the US and the UK, are the leading markets in genetic testing, with genetic testing becoming a leading emerging industry in these countries. With the progress of genetic testing technology and decrease of the cost involved, genetic testing has gained considerable attention worldwide. Statistics show that, in 2017, 830 000 individuals in 140 countries participated in the Genographic Project in the US, and the sales of ancestral DNA detection kits in the American market exceeded 6 million copies (http://www.chinadaily.com.cn/a/201801/ 21/WS5a63f65ca3106e7dcc1358a9.html).
Genetic testing is applied in both medical and nonmedical fields [1]. In medical contexts, the most important applications of genetic testing are in reproductive health research, drug research and development, tumor diagnosis and treatment, and basic medical research; genetic testing is also applied to genetic disease detection and cardiovascular disease research. In nonmedical fields, genetic testing is mainly applied in environmental pollution control, biodiversity protection, agricultural breeding, and DNA testing in forensic contexts. Currently, the global application of genetic testing mainly focuses on susceptibility to cancer, genetic diseases, and reproductive health [2–5]. Based on the increasing incidence of cancer and the improved concept of precision medicine and personalized treatment, tumor diagnosis and treatment is estimated to be the largest ap- In China, and in many other countries, plication market of gene sequencing [6,7]. genetic testing is currently the most widely According to the 2014 World Cancer used examination tool in the medical field.
For example, prenatal testing has a sample size of millions of cases annually. However, in other fields, its development remains relatively preliminary. In 2017, China’s genetic testing market had reached 2.3 billion US dollars. By 2022, the market is expected to reach about 9.5 billion US dollars (http://www.globaltimes.cn/content/ 1138708.shtml). As the industry continues to develop, and the number and scale of enterprises continues to increase, the consumer scale of genetic testing in China will witness an escalation in the next few years.
The Genetic Testing Industry Needs Effective Regulation Despite the rapid development of genetic testing as a revolutionary in vitro diagnostic technology, the substantial potential risks of genetic testing cause serious challenges for various regulatory authorities. Currently, genetic testing is mainly performed as a laboratory-developed test, otherwise known as an in-house reagent. However, several countries lack the targeted regulatory policies required to effectively control the genetic testing market. With the rapid growth of genetic testing, the high complexity and high risk of genetic testing have led to a series of issues that have presented significant challenges for in vitro diagnostic regulation in numerous countries. However, a concept similar to the laboratory-developed test in the US or the in-house test in Europe is currently lacking in some countries, including China; therefore, a targeted, clear, and unified management model is absent in these countries. Furthermore, indistinct supervision in the work of regulatory authorities can result in the ineffective regulation of ethical and privacy issues, genetic information protection, and biosecurity issues involved in genetic testing. In addition, the management, cost, and quality of genetic testing products have not yet been clearly regulated in China. The imperfect regulatory system has directly led to various problems in the genetic testing market, thereby resulting in Trends in Biotechnology, Month 2020, Vol. xx, No. xx
1
Trends in Biotechnology
an inability to protect the vital interests of consumers or patients and to promote technological innovation and industrial development.
The Current Situation and Regulatory Challenges of the Genetic Testing Industry in China In China, genetic testing development has become increasingly rapid as technical methods have quickly progressed. Currently, China has a large number of genetics companies, but fewer than ten of them are well known and considered to be large scale and technically strong; some of these include Beijing Genomics Institution, Berry Genomic, Anouta, Da’an Gene Company, and Nuohe Zhiyuan Company. Technical standards, market access standards, and a sound regulatory system for genetic testing technology are yet to be established and improved. Once achieved, these aspects would undoubtedly lead to a large number of institutions seeking profits in the name of genetic testing. In addition to the current problems in the management of the genetic testing industry and within institutions, data accuracy is another issue. In the current genetic testing industry, different service providers lack uniform standards for reporting genetic testing results. On October 28, 2017, China conducted its first clinical genetic testing standard and specification forum in Shenzhen [9]. The participants discussed the issues with clinical genetic testing services in various parts of China and exchanged views on the principles and standards of clinical genetic testing results. These steps can help to provide a basis for formulating standards and guidelines necessary for reporting such results, thereby promoting the standardization and normalization of genetic testing services.
strong and stable development of the genetic testing market, it will be essential to improve the regulatory strategies, strengthen the supervision, and optimize the market environment. Government departments should pay considerable attention to the management and supervision of the gene testing market; establish a sound regulatory system, including institutional access, enterprise regulations, quality and price supervision; and promote the development of the gene testing market toward standardization. These regulatory measures may reference existing systems for clinical examination. Adopting various supervision measures is essential to strengthen and gradually improve the supervision of testing technology, enterprise institutions, application fields, and instrument and reagent use. In addition, through various means of publicizing genetic testing technology, individuals
can attain an appropriate understanding of such technology, thereby preventing misinformation and deception. Moreover, the rationality of price setting is seemly another issue that ought to be solved. Currently, the genetic testing market has no clear regulatory policy, and the price setting is rather chaotic. Government agencies can provide guidance in this regard.
Effective Supervision Guarantees the Healthy Development of the Genetic Testing Industry Based on the experience of the US, supervision of genetic testing in various countries, including China, requires the cooperation of food and drug regulatory departments and health regulatory departments of each country (Figure 1). The government management departments must constantly improve the regulatory policies and establish
Compared with other countries, in China, the market for genetic testing is large and Trends in Biotechnology varied; therefore, fully understanding the Figure 1. Simplified Schematic of Testing Process for the Genetic Testing Industry. This schematic realistic role of this advanced technology re- shows the main regulatory responsibilities of both governmental health and food/drug administrations for this mains challenging. To effectively promote a industry. Abbreviations: FDA, US Food and Drug Administration. 2
Trends in Biotechnology, Month 2020, Vol. xx, No. xx
Trends in Biotechnology
a specific implementation of the regulatory system for genetic testing to promote a healthy development of the genetic testing industry. China, which has an increasing number of genetic testing companies and a large market demand, should refer to its actual situation for exploring effective genetic testing regulatory strategies and earnestly implementing them to ensure the sound development of the genetic testing industry. Despite the more difficult challenges, China is sure to find a way to regulate genetic testing that suits its national conditions, to make the industry more prosperous and healthy. Disclaimer Statement There are no conflicts of interest to declare.
1
Department of Nephrology, Hongqi Hospital, Mudanjiang Medical University, 5 Tongxiang Road, Aimin District, Mudanjiang 157011, Heilongjiang Province, China 2 Leeds Joint School, Southwest Jiaotong University, 999 Xian Road, Pidu District, Chengdu 611756, Sichuan Province, China 3 Department of Thoracic Surgery, The 4th Hospital of Hebei Medical University, 12 Jiankang Road, Shijiazhuang 050011, Hebei Province, China 4 Department of Thoracic Surgery, Tianjin Union Medical Center, 190 Jieyuan Road, Hongqiao District, Tianjin 300121, Tianjin, China 5 These authors contributed equally to this work. *Correspondence: [email protected] (H. Wang) and [email protected] (C. Jiang). https://doi.org/10.1016/j.tibtech.2020.01.005 © 2020 Elsevier Ltd. All rights reserved.
References 1. Sequeiro, Js (2010) Regulating genetic testing: the relevance of appropriate definitions. In Quality Issues in Clinical Genetic Services (Kristoffersson, U. et al., eds), pp. 23–32, Springer
2. Toledo, R.A. et al. (2017) Consensus statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas. Nat. Rev. Endocrinol. 13, 233–247 3. Plichta, J.K. et al. (2016) What’s new in genetic testing for cancer susceptibility? Oncology 30, 787–799 4. Middleton, A. et al. (2017) Direct-to-consumer genetic testing: where and how does genetic counseling fit? Personalized Med. 14, 249–257 5. Ferreira-Gonzalez, A. (2015) Quality control and quality assurance in solid tumor molecular genetic testing. In Molecular Oncology Testing for Solid Tumors: A Pragmatic Approach (Idowu, M.O. et al., eds), pp. 677–704, Springer 6. Holch, J.W. et al. (2017) Precision oncology and “molecular tumor boards” – concepts, chances and challenges. Dtsch. Med. Wochenschr. 142, 1676–1684 7. Hertz, D. et al. (2016) Integrated patient and tumor genetic testing for individualized cancer therapy. Clin. Pharmacol. Ther. 99, 143–146 8. Trinh-Shevrin, C. et al. (2018) Opportunities and challenges in precision medicine: improving cancer prevention and treatment for Asian Americans. J. Racial Ethn. Health Disparities 5, 1–6 9. Huang, H. et al. (2018) Discussion on the standard of clinical genetic testing report and the consensus of gene testing industry. Chin. J. Med. Genet. 35, 1–8
Trends in Biotechnology, Month 2020, Vol. xx, No. xx
3
Trends in Biotechnology
Science & Society Report, global cancer cases will have increased from 14 million in 2012 to 19 million in 2025 and 24 million in 2035 [8]. Advanced sequencing and detection technology, efficient information analysis, and rich biological resources are key factors for enterprise growth in the field of 1,5 2,5 Xiaoqin Liu, Linzhe Jiang, tumor gene detection. By 2025, the 3, Hongyan Wang, * and market size of tumor gene sequencing Chunyang Jiang 4,* in China is estimated to be 7 billion US dollars (http://www.chinadaily.com.cn/a/201908/ 19/WS5d59f3aca310cf3e355666ba.html). The genetic testing industry is In addition to tumor diagnosis and treatprogressing rapidly. In particular, ment, genetic testing technology has the demand of patients with tumors been applied widely in the field of reproducfor diagnosis, treatment, and testing tive health, and genetic testing products in drives genetic testing to develop fur- this field have gradually advanced. As gether. Simultaneously, the potential netic testing technology develops further, risks of genetic testing cause severe the penetration rate of genetic testing serchallenges to regulatory depart- vices in reproductive health research will inments. In China, a targeted, clear, crease. For all of these reasons, the genetic testing industry has great development and unified management model potential.
Importance of Effective Regulation for the Chinese Genetic Testing Industry
remains absent.
Rapid Development of the Genetic Testing Industry
In recent years, thanks to strong market demand, the genetic testing industry has progressed more rapidly than before. In particular, the demand of patients with tumors for diagnosis, treatment, and testing continues to increase rapidly, driving the demand for genetic testing to develop further. Developed countries, such as the US and the UK, are the leading markets in genetic testing, with genetic testing becoming a leading emerging industry in these countries. With the progress of genetic testing technology and decrease of the cost involved, genetic testing has gained considerable attention worldwide. Statistics show that, in 2017, 830 000 individuals in 140 countries participated in the Genographic Project in the US, and the sales of ancestral DNA detection kits in the American market exceeded 6 million copies (http://www.chinadaily.com.cn/a/201801/ 21/WS5a63f65ca3106e7dcc1358a9.html).
Genetic testing is applied in both medical and nonmedical fields [1]. In medical contexts, the most important applications of genetic testing are in reproductive health research, drug research and development, tumor diagnosis and treatment, and basic medical research; genetic testing is also applied to genetic disease detection and cardiovascular disease research. In nonmedical fields, genetic testing is mainly applied in environmental pollution control, biodiversity protection, agricultural breeding, and DNA testing in forensic contexts. Currently, the global application of genetic testing mainly focuses on susceptibility to cancer, genetic diseases, and reproductive health [2–5]. Based on the increasing incidence of cancer and the improved concept of precision medicine and personalized treatment, tumor diagnosis and treatment is estimated to be the largest ap- In China, and in many other countries, plication market of gene sequencing [6,7]. genetic testing is currently the most widely According to the 2014 World Cancer used examination tool in the medical field.
For example, prenatal testing has a sample size of millions of cases annually. However, in other fields, its development remains relatively preliminary. In 2017, China’s genetic testing market had reached 2.3 billion US dollars. By 2022, the market is expected to reach about 9.5 billion US dollars (http://www.globaltimes.cn/content/ 1138708.shtml). As the industry continues to develop, and the number and scale of enterprises continues to increase, the consumer scale of genetic testing in China will witness an escalation in the next few years.
The Genetic Testing Industry Needs Effective Regulation Despite the rapid development of genetic testing as a revolutionary in vitro diagnostic technology, the substantial potential risks of genetic testing cause serious challenges for various regulatory authorities. Currently, genetic testing is mainly performed as a laboratory-developed test, otherwise known as an in-house reagent. However, several countries lack the targeted regulatory policies required to effectively control the genetic testing market. With the rapid growth of genetic testing, the high complexity and high risk of genetic testing have led to a series of issues that have presented significant challenges for in vitro diagnostic regulation in numerous countries. However, a concept similar to the laboratory-developed test in the US or the in-house test in Europe is currently lacking in some countries, including China; therefore, a targeted, clear, and unified management model is absent in these countries. Furthermore, indistinct supervision in the work of regulatory authorities can result in the ineffective regulation of ethical and privacy issues, genetic information protection, and biosecurity issues involved in genetic testing. In addition, the management, cost, and quality of genetic testing products have not yet been clearly regulated in China. The imperfect regulatory system has directly led to various problems in the genetic testing market, thereby resulting in Trends in Biotechnology, Month 2020, Vol. xx, No. xx
1
Trends in Biotechnology
an inability to protect the vital interests of consumers or patients and to promote technological innovation and industrial development.
The Current Situation and Regulatory Challenges of the Genetic Testing Industry in China In China, genetic testing development has become increasingly rapid as technical methods have quickly progressed. Currently, China has a large number of genetics companies, but fewer than ten of them are well known and considered to be large scale and technically strong; some of these include Beijing Genomics Institution, Berry Genomic, Anouta, Da’an Gene Company, and Nuohe Zhiyuan Company. Technical standards, market access standards, and a sound regulatory system for genetic testing technology are yet to be established and improved. Once achieved, these aspects would undoubtedly lead to a large number of institutions seeking profits in the name of genetic testing. In addition to the current problems in the management of the genetic testing industry and within institutions, data accuracy is another issue. In the current genetic testing industry, different service providers lack uniform standards for reporting genetic testing results. On October 28, 2017, China conducted its first clinical genetic testing standard and specification forum in Shenzhen [9]. The participants discussed the issues with clinical genetic testing services in various parts of China and exchanged views on the principles and standards of clinical genetic testing results. These steps can help to provide a basis for formulating standards and guidelines necessary for reporting such results, thereby promoting the standardization and normalization of genetic testing services.
strong and stable development of the genetic testing market, it will be essential to improve the regulatory strategies, strengthen the supervision, and optimize the market environment. Government departments should pay considerable attention to the management and supervision of the gene testing market; establish a sound regulatory system, including institutional access, enterprise regulations, quality and price supervision; and promote the development of the gene testing market toward standardization. These regulatory measures may reference existing systems for clinical examination. Adopting various supervision measures is essential to strengthen and gradually improve the supervision of testing technology, enterprise institutions, application fields, and instrument and reagent use. In addition, through various means of publicizing genetic testing technology, individuals
can attain an appropriate understanding of such technology, thereby preventing misinformation and deception. Moreover, the rationality of price setting is seemly another issue that ought to be solved. Currently, the genetic testing market has no clear regulatory policy, and the price setting is rather chaotic. Government agencies can provide guidance in this regard.
Effective Supervision Guarantees the Healthy Development of the Genetic Testing Industry Based on the experience of the US, supervision of genetic testing in various countries, including China, requires the cooperation of food and drug regulatory departments and health regulatory departments of each country (Figure 1). The government management departments must constantly improve the regulatory policies and establish
Compared with other countries, in China, the market for genetic testing is large and Trends in Biotechnology varied; therefore, fully understanding the Figure 1. Simplified Schematic of Testing Process for the Genetic Testing Industry. This schematic realistic role of this advanced technology re- shows the main regulatory responsibilities of both governmental health and food/drug administrations for this mains challenging. To effectively promote a industry. Abbreviations: FDA, US Food and Drug Administration. 2
Trends in Biotechnology, Month 2020, Vol. xx, No. xx
Trends in Biotechnology
a specific implementation of the regulatory system for genetic testing to promote a healthy development of the genetic testing industry. China, which has an increasing number of genetic testing companies and a large market demand, should refer to its actual situation for exploring effective genetic testing regulatory strategies and earnestly implementing them to ensure the sound development of the genetic testing industry. Despite the more difficult challenges, China is sure to find a way to regulate genetic testing that suits its national conditions, to make the industry more prosperous and healthy. Disclaimer Statement There are no conflicts of interest to declare.
1
Department of Nephrology, Hongqi Hospital, Mudanjiang Medical University, 5 Tongxiang Road, Aimin District, Mudanjiang 157011, Heilongjiang Province, China 2 Leeds Joint School, Southwest Jiaotong University, 999 Xian Road, Pidu District, Chengdu 611756, Sichuan Province, China 3 Department of Thoracic Surgery, The 4th Hospital of Hebei Medical University, 12 Jiankang Road, Shijiazhuang 050011, Hebei Province, China 4 Department of Thoracic Surgery, Tianjin Union Medical Center, 190 Jieyuan Road, Hongqiao District, Tianjin 300121, Tianjin, China 5 These authors contributed equally to this work. *Correspondence: [email protected] (H. Wang) and [email protected] (C. Jiang). https://doi.org/10.1016/j.tibtech.2020.01.005 © 2020 Elsevier Ltd. All rights reserved.
References 1. Sequeiro, Js (2010) Regulating genetic testing: the relevance of appropriate definitions. In Quality Issues in Clinical Genetic Services (Kristoffersson, U. et al., eds), pp. 23–32, Springer
2. Toledo, R.A. et al. (2017) Consensus statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas. Nat. Rev. Endocrinol. 13, 233–247 3. Plichta, J.K. et al. (2016) What’s new in genetic testing for cancer susceptibility? Oncology 30, 787–799 4. Middleton, A. et al. (2017) Direct-to-consumer genetic testing: where and how does genetic counseling fit? Personalized Med. 14, 249–257 5. Ferreira-Gonzalez, A. (2015) Quality control and quality assurance in solid tumor molecular genetic testing. In Molecular Oncology Testing for Solid Tumors: A Pragmatic Approach (Idowu, M.O. et al., eds), pp. 677–704, Springer 6. Holch, J.W. et al. (2017) Precision oncology and “molecular tumor boards” – concepts, chances and challenges. Dtsch. Med. Wochenschr. 142, 1676–1684 7. Hertz, D. et al. (2016) Integrated patient and tumor genetic testing for individualized cancer therapy. Clin. Pharmacol. Ther. 99, 143–146 8. Trinh-Shevrin, C. et al. (2018) Opportunities and challenges in precision medicine: improving cancer prevention and treatment for Asian Americans. J. Racial Ethn. Health Disparities 5, 1–6 9. Huang, H. et al. (2018) Discussion on the standard of clinical genetic testing report and the consensus of gene testing industry. Chin. J. Med. Genet. 35, 1–8
Trends in Biotechnology, Month 2020, Vol. xx, No. xx
3