THE APPLICATION OF GENOMIC MEDICINE IN HAEMATOLOGY: THE CHALLENGES AND ETHICAL IMPLICATIONS
(Abstract release date: 05/19/16)
EHA Library. Rubasingham J. 06/09/16; 135000; PB2100
Dr. Jeffrey Rubasingham
Contributions
Contributions
Abstract
Abstract: PB2100
Type: Publication Only
Background
Two scientists walked into a Cambridgeshire pub in 1953 and announced that they had discovered 'the secret of life'. Since the discovery of DNA by Watson and Crick, the field of human molecular biology and genetics has grown in leaps and bounds over the last few decades. Although it took almost ten years for the first ever human genome to be sequenced, today, with technology referred to as the ‘next generation sequencing’, millions of fragments of DNA from a sample are analysed on parallel sequencing platforms, facilitating high-throughput sequencing and allowing the entire genome to be sequenced in less than a day, at a considerably less cost. The effects of these advancements have been felt in clinical haematology, arguably more so than in the other specialties, given the application of cancer genomics in haematology. ‘Targeted therapy’ and ‘personalised medicine’ have become the buzz words in any specialty dealing with cancer. Are these new developments the pinnacle of modern medicine as we are often led to believe?
Aims
Although there is an abundance of studies on the scientific aspects of genomic medicine, there is surprisingly sparse amount of literature exploring the ethical implications and challenges of genomic medicine, even more so as it applies to haematology. This study aims to evaluate the place of genomic medicine in clinical haematology and provide a critical appraisal, focussing on the challenges it poses and ethical implications that arise from it.
Methods
MEDLINE database was searched using the keywords 'genomic', 'haematology' and 'ethics' to identify the relevant literature. The governing principles of modern medical ethics were applied to the topic in question.
Results
Several issues were identified from studies looking at ethical issues arising from genomic medicine. A common theme was responsibility placed on researchers to disclose potentially beneficial genetic information to the participants or patients. This is further complicated when the patient has made an advance decision explicitly expressing that s/he would not want to be contacted should further information become available. Although most would respect the patient's autonomy in this context, some might argue (controversially) that depending on the gravity of information being withheld, a paternalistic approach would be warranted. A similar conundrum may also arise when a clinician may be aware of genetic information of potential benefit to a patient which they may have acquired from the patient's relative.Although next generation sequencing has made genomic medicine much cheaper, it still remains a commodity which is not commonly used in everyday clinical practice. There is inter-regional and intraregional variation in the availability of this specialist service, raising the ethical issues of resource allocation, justice and equity. Of recent times, there have been many large population based genomic studies such as the 1000 genomes project and the recently launched 100 000 genomes project in the UK. Although some of these projects obtain genomic data from patient populations who donate their genetic material with altruistic motives, it can open up opportunities for pharmaceutical companies to benefit financially from these studies, creating a very grey area in modern ethics.
Conclusion
Although there has been tremendous benefits to patients from the advances in genomic medicine, particularly as it applies to cancer genomics and targeted therapy in haematology, it is not without challenges. Several ethically ambiguous issues arise, particularly in the conduct of research in this rapidly advancing field.
Session topic: E-poster
Keyword(s): Genomics, Hematological malignancy
Type: Publication Only
Background
Two scientists walked into a Cambridgeshire pub in 1953 and announced that they had discovered 'the secret of life'. Since the discovery of DNA by Watson and Crick, the field of human molecular biology and genetics has grown in leaps and bounds over the last few decades. Although it took almost ten years for the first ever human genome to be sequenced, today, with technology referred to as the ‘next generation sequencing’, millions of fragments of DNA from a sample are analysed on parallel sequencing platforms, facilitating high-throughput sequencing and allowing the entire genome to be sequenced in less than a day, at a considerably less cost. The effects of these advancements have been felt in clinical haematology, arguably more so than in the other specialties, given the application of cancer genomics in haematology. ‘Targeted therapy’ and ‘personalised medicine’ have become the buzz words in any specialty dealing with cancer. Are these new developments the pinnacle of modern medicine as we are often led to believe?
Aims
Although there is an abundance of studies on the scientific aspects of genomic medicine, there is surprisingly sparse amount of literature exploring the ethical implications and challenges of genomic medicine, even more so as it applies to haematology. This study aims to evaluate the place of genomic medicine in clinical haematology and provide a critical appraisal, focussing on the challenges it poses and ethical implications that arise from it.
Methods
MEDLINE database was searched using the keywords 'genomic', 'haematology' and 'ethics' to identify the relevant literature. The governing principles of modern medical ethics were applied to the topic in question.
Results
Several issues were identified from studies looking at ethical issues arising from genomic medicine. A common theme was responsibility placed on researchers to disclose potentially beneficial genetic information to the participants or patients. This is further complicated when the patient has made an advance decision explicitly expressing that s/he would not want to be contacted should further information become available. Although most would respect the patient's autonomy in this context, some might argue (controversially) that depending on the gravity of information being withheld, a paternalistic approach would be warranted. A similar conundrum may also arise when a clinician may be aware of genetic information of potential benefit to a patient which they may have acquired from the patient's relative.Although next generation sequencing has made genomic medicine much cheaper, it still remains a commodity which is not commonly used in everyday clinical practice. There is inter-regional and intraregional variation in the availability of this specialist service, raising the ethical issues of resource allocation, justice and equity. Of recent times, there have been many large population based genomic studies such as the 1000 genomes project and the recently launched 100 000 genomes project in the UK. Although some of these projects obtain genomic data from patient populations who donate their genetic material with altruistic motives, it can open up opportunities for pharmaceutical companies to benefit financially from these studies, creating a very grey area in modern ethics.
Conclusion
Although there has been tremendous benefits to patients from the advances in genomic medicine, particularly as it applies to cancer genomics and targeted therapy in haematology, it is not without challenges. Several ethically ambiguous issues arise, particularly in the conduct of research in this rapidly advancing field.
Session topic: E-poster
Keyword(s): Genomics, Hematological malignancy
Abstract: PB2100
Type: Publication Only
Background
Two scientists walked into a Cambridgeshire pub in 1953 and announced that they had discovered 'the secret of life'. Since the discovery of DNA by Watson and Crick, the field of human molecular biology and genetics has grown in leaps and bounds over the last few decades. Although it took almost ten years for the first ever human genome to be sequenced, today, with technology referred to as the ‘next generation sequencing’, millions of fragments of DNA from a sample are analysed on parallel sequencing platforms, facilitating high-throughput sequencing and allowing the entire genome to be sequenced in less than a day, at a considerably less cost. The effects of these advancements have been felt in clinical haematology, arguably more so than in the other specialties, given the application of cancer genomics in haematology. ‘Targeted therapy’ and ‘personalised medicine’ have become the buzz words in any specialty dealing with cancer. Are these new developments the pinnacle of modern medicine as we are often led to believe?
Aims
Although there is an abundance of studies on the scientific aspects of genomic medicine, there is surprisingly sparse amount of literature exploring the ethical implications and challenges of genomic medicine, even more so as it applies to haematology. This study aims to evaluate the place of genomic medicine in clinical haematology and provide a critical appraisal, focussing on the challenges it poses and ethical implications that arise from it.
Methods
MEDLINE database was searched using the keywords 'genomic', 'haematology' and 'ethics' to identify the relevant literature. The governing principles of modern medical ethics were applied to the topic in question.
Results
Several issues were identified from studies looking at ethical issues arising from genomic medicine. A common theme was responsibility placed on researchers to disclose potentially beneficial genetic information to the participants or patients. This is further complicated when the patient has made an advance decision explicitly expressing that s/he would not want to be contacted should further information become available. Although most would respect the patient's autonomy in this context, some might argue (controversially) that depending on the gravity of information being withheld, a paternalistic approach would be warranted. A similar conundrum may also arise when a clinician may be aware of genetic information of potential benefit to a patient which they may have acquired from the patient's relative.Although next generation sequencing has made genomic medicine much cheaper, it still remains a commodity which is not commonly used in everyday clinical practice. There is inter-regional and intraregional variation in the availability of this specialist service, raising the ethical issues of resource allocation, justice and equity. Of recent times, there have been many large population based genomic studies such as the 1000 genomes project and the recently launched 100 000 genomes project in the UK. Although some of these projects obtain genomic data from patient populations who donate their genetic material with altruistic motives, it can open up opportunities for pharmaceutical companies to benefit financially from these studies, creating a very grey area in modern ethics.
Conclusion
Although there has been tremendous benefits to patients from the advances in genomic medicine, particularly as it applies to cancer genomics and targeted therapy in haematology, it is not without challenges. Several ethically ambiguous issues arise, particularly in the conduct of research in this rapidly advancing field.
Session topic: E-poster
Keyword(s): Genomics, Hematological malignancy
Type: Publication Only
Background
Two scientists walked into a Cambridgeshire pub in 1953 and announced that they had discovered 'the secret of life'. Since the discovery of DNA by Watson and Crick, the field of human molecular biology and genetics has grown in leaps and bounds over the last few decades. Although it took almost ten years for the first ever human genome to be sequenced, today, with technology referred to as the ‘next generation sequencing’, millions of fragments of DNA from a sample are analysed on parallel sequencing platforms, facilitating high-throughput sequencing and allowing the entire genome to be sequenced in less than a day, at a considerably less cost. The effects of these advancements have been felt in clinical haematology, arguably more so than in the other specialties, given the application of cancer genomics in haematology. ‘Targeted therapy’ and ‘personalised medicine’ have become the buzz words in any specialty dealing with cancer. Are these new developments the pinnacle of modern medicine as we are often led to believe?
Aims
Although there is an abundance of studies on the scientific aspects of genomic medicine, there is surprisingly sparse amount of literature exploring the ethical implications and challenges of genomic medicine, even more so as it applies to haematology. This study aims to evaluate the place of genomic medicine in clinical haematology and provide a critical appraisal, focussing on the challenges it poses and ethical implications that arise from it.
Methods
MEDLINE database was searched using the keywords 'genomic', 'haematology' and 'ethics' to identify the relevant literature. The governing principles of modern medical ethics were applied to the topic in question.
Results
Several issues were identified from studies looking at ethical issues arising from genomic medicine. A common theme was responsibility placed on researchers to disclose potentially beneficial genetic information to the participants or patients. This is further complicated when the patient has made an advance decision explicitly expressing that s/he would not want to be contacted should further information become available. Although most would respect the patient's autonomy in this context, some might argue (controversially) that depending on the gravity of information being withheld, a paternalistic approach would be warranted. A similar conundrum may also arise when a clinician may be aware of genetic information of potential benefit to a patient which they may have acquired from the patient's relative.Although next generation sequencing has made genomic medicine much cheaper, it still remains a commodity which is not commonly used in everyday clinical practice. There is inter-regional and intraregional variation in the availability of this specialist service, raising the ethical issues of resource allocation, justice and equity. Of recent times, there have been many large population based genomic studies such as the 1000 genomes project and the recently launched 100 000 genomes project in the UK. Although some of these projects obtain genomic data from patient populations who donate their genetic material with altruistic motives, it can open up opportunities for pharmaceutical companies to benefit financially from these studies, creating a very grey area in modern ethics.
Conclusion
Although there has been tremendous benefits to patients from the advances in genomic medicine, particularly as it applies to cancer genomics and targeted therapy in haematology, it is not without challenges. Several ethically ambiguous issues arise, particularly in the conduct of research in this rapidly advancing field.
Session topic: E-poster
Keyword(s): Genomics, Hematological malignancy
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