Genomic Medicine - Science and Technology Committee Contents


Members visiting Members visiting: Lord Patel (Chairman), Lord Colwyn, Baroness Perry of Southwark and Lord Warner. In attendance: Mrs Elisa Rubio (Clerk) and Professor Tim Aitman (Specialist Adviser).

The trip was hosted by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), and meetings were held at Lawton Chiles International House on the NIH campus over the three days of our visit.

The NHGRI, one of 27 institutes and centres that made up the NIH, and was a major contributor to the Human Genome Project, which had as its primary goal the sequencing of the human genome. The NHGRI's mission encompassed a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease and supported studies on the ethical, legal and social implications of genome research. It also funded the training of investigators and the dissemination of genome information to the public and to health professionals. The NHGRI received its funding through annual Congressional appropriation. Its 2007 budget was $486 million.

Wednesday 4 June

Session 1: State of Science in Genomics

Presentations by Dr Francis Collins, Director of the NHGRI; Dr Teri Manolio, Director of the Office of Population Genomics, NHGRI; Dr Stephen Chanock, Chief, Laboratory of Translational Genomics; and Dr Jeff Schloss, Programme Director for Technology Development Coodination, Division of Extramural Research, NHGRI.

Dr Collins summarised developments in genome science, from the delivery of the double helix structure of DNA in 1953 to the sequence of the human genome in 2003. Technology advances, particularly dramatic reductions in sequencing and genotyping costs, had led to an exhilarating pace of discovery in the past two to three years about the genetic basis of common diseases such as multiple sclerosis, rheumatoid arthritis and Crohn's disease. He described parallel discoveries for genomic testing of drug efficacy and highlighted new opportunities for disease treatment that had arisen from this new knowledge, for example new drug development and gene therapy.

Dr Manolio emphasised that the new genome-wide association studies (GWAS), in which the Wellcome Trust had played a key role, had a requirement for very large sample sizes and for sophisticated IT. Fifty five GWAS had now been published. There had been few, if any, similar bursts of discovery in biomedical research previously. The studies had yielded many insights into the genetic basis of individual common diseases, and had also revealed a shared genetic basis, previously unsuspected, for a range of apparently diverse disorders. Dr Manolio also highlighted the potential for errors in such large studies, and that these initial studies, whilst very positive, were only skimming the surface in our understanding of the causes and potential treatments of common disease.

Dr Chanock talked about the advances in understanding the genetic basis of cancer since the start of GWAS in 2006. For example in prostate cancer, the number of known genes had risen from one to 16. However these tools did not allow measurement of environmental contributions and it was also not known how these genetic factors interacted with one another. Therefore the completion of many GWAS should be seen as just the start in the long road to understanding the genetic basis of diseases such as cancer.

Dr Schloss described the extraordinary advances in sequencing technology that had taken place over the past few years. Alongside a massive increase in sequence output, there had been a 100-fold reduction in sequencing costs over the last ten years. Cost reduction by a further 10,000-fold was a current aim which would permit the sequencing of a human genome for just $1000. The NIH had so far awarded grants totalling $99 million to help achieve this goal. Dr Schloss also described many new technologies that were currently being supported in pursuit of the more immediate goal of the $100,000 genome, which should be achieved by late 2008 or early 2009.


The newly discovered genes for common diseases could lead to advances in diagnostics and therapeutics over the following five years. Insights into the genetic basis of breast cancer and colon cancer, for example, were already leading to changes in screening programmes for these disorders. Within five years, it would be possible to prove that new interventions were clinically useful on an individual basis. Therapeutic advances would take place by using the newly discovered genes as therapeutic targets but clinical trials of new drugs acting on these targets would take longer, perhaps 10-15 years.

It was difficult to disaggregate genetic and epigenetic effects, though epigenetic factors might be important in some diseases such as cancer. Some genomic tests might also reduce the need for animal testing, for example of drug toxicity.

The most important recommendations for further advances in this field were more support for research, more focus on disease prevention rather than treatment, and more thoughtful regulation and information on genetic testing.

Session 2: Translation to Clinical Care I

Presentations by Dr Mark Guyer, Director of Extramural Research, NHGRI; Dr Adam Felsenfeld, Programme Director of Large Scale Sequencing, NHGRI; Dr Leslie Biesecker, Chief and Senior Investigator, Genetic Disease Research Branch, NHGRI; and Dr Muin Khoury, Director, National Office of Public Health Genomics, Centres for Disease Control and Prevention.

Dr Guyer described the establishment of the National Human Genome Research Institute (NHGRI) as a change from a cottage industry to the efficient generation of a comprehensive catalogue of genomic information, with pre-publication release of data and very large-scale projects based on close international collaborations. Since completion of the human genome project in 2003, the NHGRI's mission had expanded and focussed on understanding the structure and function of the human genome and its role in health and disease. NHGRI had awarded substantial grants in genomics; one example that had yielded fruit was the cancer genome atlas, a partnership with the National Cancer Institute, funded at the level of $100 million over three years. The project had already obtained significant results on the genetic basis of several cancers.

Dr Felsenfeld explained the design and progress of the 1000 Genomes Project, seen as a follow-up to the present range of GWAS. The 1000 Genomes Project was an international collaboration between the UK Sanger Institute and genome institutes in Beijing, Texas, Boston and Washington. The project would sequence the genomes of up to 500 people in each of three populations in Europe, Africa and East Asia. The advances brought about by this project would provide a complete catalogue of DNA sequence variation across several populations and a catalogue of much rarer types of variation than was hitherto possible. Data storage and transfer was a great challenge. It was anticipated that the 1000 Genomes Project and parallel projects in medical sequencing would identify many new sequence variations that underlie disease and would be medically relevant.

Dr Biesecker described the ClinSeq project and how major advances in DNA sequencing could provide benefits for individual patients in the clinic. Using examples such as the genetic diagnosis of patients with high cholesterol, he described how sequencing medically relevant genes could help medical research and treatment of patients.

Dr Khoury talked about the advances in genetics of common diseases in the context of four phases from transitional biomedical research to the clinic. Most discoveries became stuck at the second stage, the point at which evidence-based practice guidelines were developed. He emphasised the importance and strong evidence base of conventional public health, for example treatment with statins and aspirin for prevention of coronary disease, compared to the lack of evidence of clinical utility in the use of newly-discovered genes for common diseases for treating or preventing disease. He described several studies currently at an early stage which were designed to determine clinical utility of genomic testing. He cautioned against premature translation of genetic testing without an evidence base.


It was recognised that it was easier to generate sequence data than to interpret that data and that whilst part of this was an informatics problem, the lack of prospective studies was also a major barrier to realising clinical utility. It was emphasised that conventional risk factors such as body mass index and cholesterol should lead to good advice about diet and exercise, while genetic testing in the context of newly discovered common disease genes might not add significantly to existing advice on disease prevention that was already given to patients. The major benefits of new disease gene discovery are likely to arise from the ability to develop new drugs based on novel targets. Genetics was a very fertile area of clinical research that could lead to clinically relevant advances, for example in increasing efficacy of drug prescribing. However many of the relevant clinical trials had not been carried out to date.

Session 3: Translation to Clinical Care II

Presentations by Dr Linda Avey, Co-Founder of 23andMe (via teleconference); Dr Dietrich Stephan, Co-founder of Navigenics and Director and Senior Investigator, Translational Genomics Research Institute (TGen); Dr Larry Brody, Senior Investigator, Genome Technology Branch, NIH; and Dr Amy Miller, Public Policy Director, Personalized Medicine Coalition.

Dr Avey described her role as co-founder of 23andMe in setting up genomic tests sold direct to the public. She described services such as "chromosome painting", a graphical tool to illustrate ancestry; "family tools", a tool for graphically displaying information about inheritance across the genome; other tools for specific genes for attributes such as circadian rhythm and alcohol flush; and genomic profiling tests giving information on susceptibility to individual common diseases. For example, for type 2 diabetes, their tests indicated the relative risk of developing disease based on results from up to 30 low penetrance genes compared to the average risk of the population. The company provided an email counselling service which dealt mostly with technical or ancestry questions. They worked with national genetic counsellors rather than offering an individual genetic counselling service.

Dr Stephan, founder of Navigenics, talked about the activities of his company in providing genomic profiles direct to the public. The company provided a comprehensive service from customer acquisition of samples to generation and interpretation of test results via a personalised web portal, as well as ongoing update services for customers and academic partners. The company philosophy was that the private sector played a critical and necessary role in disseminating research findings, which was not at odds with responsible provision of a quality service. He expressed the view that these technologies could provide substantial savings, for example in prevention of Alzheimer's disease and type 2 diabetes. The Navigenics laboratory had stringent quality control measures that were provided in the context of national accreditation schemes and education programmes for physicians and customers. The company worked with the Personalized Medicine Coalition in encouraging public and professional participation in the company's activities. This included access to genetic counsellors within the Navigenics service and the desire to work within statutory and other regulations.

Dr Brody discussed whether the state of the science was ready for personalised medicine now or if it was too early. He included within his definition of personalised medicine the opportunity for individual diagnostics, pharmacogenetics risk assessment and modification, and development of new drugs. Genetic testing could be compared to other promising interventions such as early lung cancer detection by chest x-ray and treatment of back pain with early disc surgery. An important question was whether individual test results from research studies should be fed back to research study participants. As part of the Multiplex project, Dr Brody had studied 2000 participants tested for 15 genes in eight health conditions. Approximately half of those who took part in the study wished to receive their test results. The proportion taking part was lower in African Americans than white Americans. As with other healthcare interventions, reaching certain segments of the population would be difficult. To realise significant potential for healthcare impact at the population level it was important to learn from studies in practice.

Dr Miller described the activities of the Personalized Medicine Coalition in educating policy makers and healthcare leaders about the opportunities for personalised medicine. With a wide membership from the commercial, academic and public sectors, the Coalition aimed to provide opinion leadership on public policy issues, to help educate public policy makers, government officials and the private sector about benefits of personalised medicine, and to serve as a forum for information and policy development. Areas of activity included the combined use of genetic testing with drug treatment, working with the FDA to change labels on pharmacogenetic tests, and discussions with international colleagues in the US, UK and elsewhere on optimum methods of regulation and development of diagnostic tests. She described tensions between the commercial diagnostic and pharmaceutical sectors, and anxieties of US pharmaceutical companies about meeting recommendations of international bodies such as the UK National Institute for Health and Clinical Excellence (NICE).


A major difference between genetic and conventional risk factors was that conventional, environmental risk factors could be modified whereas as genetic factors could not. The view was expressed that the use of currently known genetic variants as part of genetic testing to predict development of common diseases did not add substantially to risk prediction by using conventional risk factors. Public demand for genetic tests was acknowledged to be growing, but commercial products in this area had only been launched very recently. It was recognised that the benefits of early intervention in diseases such as Alzheimer's disease were based on assumptions rather than an objective evidence base.

Tour of NIH Chemical Genomics Centre

Presentation by Dr Christopher Austin, Director, NIH Chemical Genomics Centre.

Following a tour of the Chemical Genomics Center, Dr Austin gave a presentation in which he described how the Center had been founded in 2004 and now comprised 54 scientists including biologists, chemists, informaticians and engineers, who collaborated with more than 100 investigators world-wide and had the capacity to screen more than 250,000 compounds in their collection. The strategy was to bridge the gap between basic science discovery and commercial drug development in the pharmaceutical industry. Some discoveries had already reached commercial viability, for example a compound shown to be useful for the treatment of schistosomiasis. It was anticipated that the activities and strategy of the Center would reduce the cost, shorten the time, and improve the success rate in screening of lead compounds for drug development.

Session 4: Regulation and Policy I: General

Presentations by Dr M.K. Holohan, Health Policy Analyst, Office of Policy, Communications and Education, NGHRI; Dr Derek Scholes, Government Relations Manager, American Heart Association; Dr Louis Jacques, Director, Division of Items and Devices Coverage, Centers for Medicare and Medicaid Services; and John Bartrum, Associate Director for Budget, NIH.

Dr Holohan gave an overview of the Genetic Information Non-discrimination Act of 2008 (GINA), a federal law that prevented health insurers and employers from discrimination based on an individual's genetic information. GINA, which had been heralded as the first major new civil rights bill of the new century, prohibited health insurers from requiring genetic information or using it in decisions regarding coverage, premiums or pre-existing conditions. It also prohibited employers from requiring genetic information or using it for decisions regarding hiring, firing or any terms of employment. However, GINA did not apply to life, disability or long-term care insurance.

Dr Scholes classified genetic tests into four categories: tests for single-gene disorders such as cystic fibrosis, multi-gene tests for chronic diseases such as cancer, tests that aided disease management such as those carried out to ascertain the correct dosage for blood thinners, and lifestyle type testing such as nutrigenomic tests and those for addictiveness to tobacco, etc. He highlighted three regulatory gaps in relation to genetic tests: (1) measurement of analytical validity (the extent to which a test was accurate and reliable) was not a requirement and was not assessed for all tests; (2) the majority of tests came to the market without FDA approval as they were developed in individual laboratories and therefore had exemption; and (3) scientists and administrators questioned the usefulness of many tests on the market.

The Laboratory Test Improvement Bill was currently being considered by Congress and the Senate although it was unlikely to be passed during 2008. The bill provided for FDA oversight of all laboratory developed tests, an FDA public registry of tests, and the submission of analytical and clinical validity data to the FDA.

Dr Jacques described the Medicare programme. It was a national programme with 54 million subscribers in the US, mostly over 65. The Social Security Act stated that payments should not be made for prevention and screening, only for curing. Therefore predictive or pre-symptomatic genetic tests and services, in the absence of past or present illness in the beneficiary, were not covered under Medicare rules. Dr Jacques anticipated that Medicare was due to run out of money by 2019. The programme was administered region by region; therefore some services were available in one region and not in others. Ten percent of coverage decisions in Medicare were national and 90 percent were regional.

Mr Bartram explained the federal budget process of the NIH from its conception all the way to the President's signature. Different NIH departments had five year plans to identify trends. Most of the NIH budget was spent on the 10,000 grants given out each year with an average duration of three and a half years. The total programme budget was $29.5 billion and it had been flat for the past three years. Mr Bartrum highlighted two challenges in order to maintain the US as a pre-eminent force in biomedical research: the loss of purchasing power and ageing equipment and supplies.


Physicians would be put in a difficult position if they were asked by patients not to include genetic test results in their medical records. Including life, disability and long-term care insurance under GINA would have been better for individuals, but it had taken 13 years for GINA to become law and if other types of insurance had been included it would have been almost impossible for it to have been passed.

Legislation of genetic tests had taken a long time to reach the statute book. Legislators prefered statutory protection as opposed to a code of practice, such as the UK insurance Moratorium, as the latter was not enforceable. New York State had prohibited direct-to-consumer tests and therefore an American company could not sell such products in that State.

Medicare did not see sufficient benefits for patients to justify payment for most genetic tests. If an individual were tested for the BRCA1 and BRCA2 mutations and then developed breast cancer, Medicare would pay for the treatment but not for the tests.

Session 5: Regulation and Policy II: Oversight of Genetic Testing

Presentations by Gail Javitt, Law and Policy Director, Genetics and Public Policy Center; Dr Phyllis Frosst, Senior Science Policy Analyst, NHGRI; Dr Steve Gutman, Director of the Office of In Vitro Diagnostic Device Evaluation and Safety, Food and Drug Administration (FDA); and Judy Yost, Director, Division of Laboratory Services, Centers for Medicare and Medicaid Services.

Ms Javitt talked about the Genetics and Public Policy Center at Johns Hopkins University. Certain goals were required in the oversight of genetic testing in order to achieve public confidence. These included ensuring that laboratory testing was of high quality, and that tests carried out were clinically valid and made truthful claims about tests' benefits and limitations. Oversight should encompass development of new tests to avoid delaying their translation into clinical practice. Continuing oversight of genetic tests would require new laws as current regulation did not fit the new context and technology continued to move rapidly.

The regulatory status of genetic tests depended on how the laboratory developed and performed the test. If the test was sold as a test kit or system then FDA had oversight of that test because it was classified as a medical device. By contrast, if a test were developed by a laboratory and carried out at the same laboratory FDA regulation was not required. At present most genetic tests were laboratory-developed and therefore clinical validation was not required.

Dr Frosst gave an overview of the Secretary's Advisory Committee on Genetics, Health and Society (SACGHS). One of the activities of SACGHS was to identify gaps in the US system of oversight of genetic testing, and to make recommendations about how those gaps might be filled. Their report "US System of Oversight of Genetic Testing" was published in April 2008 and called for more oversight of genetic testing, citing "significant gaps" in validating the tests' usefulness, especially those sold direct to consumers. The SACGHS also recommended "to enhance the transparency of genetic testing and assist efforts in reviewing the clinical validity of laboratory tests", and that the Department of Health and Human Services should appoint and fund a lead agency to develop and maintain a mandatory, publicly available, web-based registry of laboratory testing. The SACGHS also called for the creation of a public-private partnership to evaluate clinical utility of genetic tests.

The Food and Drug Administration (FDA) was a government regulatory agency that helped ensure the safety and effectiveness of cosmetics, foods, drugs, and medical devices under the Federal Food, Drug, and Cosmetic Act. The Office of In Vitro Diagnostic Device Evaluation and Safety regulated all aspects of in-home and laboratory diagnostic tests (in vitro diagnostic devices (IVDs)). The standardised road map for evaluation assessed analytical performance, clinical performance and labelling. Although laboratory-developed tests were subject to CLIA (Clinical Laboratory Improvement Amendments, administered as part of Medicare), only some are considered medical devices by the FDA. Therefore the majority of laboratory developed tests were not required to carry out clinical validation or pre-market review and there were no post-market reporting requirements. Laboratory-developed tests, the most common path for genetic tests, had a less burdensome path to market and this could be the source of inadvertent or deliberate abuse, including in the development and marketing of direct-to-consumer tests.

The objective of the CLIA program was to ensure accurate, reliable and timely laboratory testing. The requirements were minimal and were based on test complexity. Most genetic tests were categorised as high complexity. The programme was funded entirely by user fees, not government, and covered all testing on human specimens for health assessment within the 200,000 enrolled laboratories. Under CLIA, no specific evaluation for genetic tests existed because genetic testing was considered such a dynamic area that prescriptive standards would be quickly outdated and would lock laboratories into outmoded compliance. CLIA did not cover clinical validity, utility, or claims made by direct-to-consumer tests.


The definition of what tests needed FDA approval was clear and was not necessarily determined by whether a test was viewed as genetic or non-genetic. Some direct-to-consumer testing companies claimed that they only provided genetic information and not medical information.

The number of genetic tests sold directly to the consumer was currently around 30, but this number was increasing weekly. There were around 24 companies that provided direct-to-consumer tests over the Internet.

Professional bodies were traditional in their approach and broadly opposed to regulation. There was no equivalent of the UK Genetic Testing Network (UKGTN) in the US and the FDA or CLIA had no contact with UKGTN.

Session 6: Bioinformatics

Presentations by Samuel Aronson, Executive Director of Information Technology, Harvard Medical School; Dr Peter Good, Program Director, Division of Extramural Research, NHGRI; Dr Jonathan Pevsner, Director, Bioinformatics Facility, Kennedy Krieger Institute; and Elizabeth Humphreys, Deputy Director, US National Library of Medicine.

Dr Aronson described the goal of the Harvard Medical School Partners Healthcare Center as providing an information infrastructure that improved patient care by enabling clinicians to use the increasing amounts of genetic and genomic data that were relevant to healthcare. Clinical decision-making by the physician was based on ordering genetic tests in a consultation lasting on average 14.7 minutes. The goal was to make widespread data sources including personal medical and genomic information available in a clinically readable format. The cost of DNA sequencing had dropped dramatically in recent years with the $1,000 genome expected to be reached in 2015. At that time, it would be possible to apply a genotyping model to clinical practice, using a broad spectrum test for general use including sequence data of hundreds of thousands to millions of variations for each patient, which would be stored in a repository and routinely accessed to understand the implications of a patient's genome. When this model came to clinical practice the need for bioinformaticians would be enormous.

The NHGRI spent 13.5 percent of extramural funds in informatics, which amounted to $53 million in 2007. There were two strands of spending: resource projects, such as model organism databases, data standard and protein/pathway databases; and technology development (research), or how to extract information from genome datasets. The NIH roadmap identified bioinformatics and computational biology as a key area. However there were many challenges ahead: the production of increasingly large amounts of data; new technologies, and new data analysis methods; funding for resources; lack of recognition of computational biologists; and training.

Dr Pevsner defined bioinformatics as the interface of biology and computers, essentially the analysis of proteins, genes and genomes using computer algorithms and databases. Genomics was the analysis of genomes, including the nature of genetic elements on chromosomes. Bioinformatic tools were used to make sense of the billions of base pairs of DNA that were sequenced by genomics projects. There were great challenges when creating a disease database such as the difficulty in organising the data by genes or by disease; the complexity of disease mechanisms which were not readily captured; the often obscure connection between a gene and a disease; and the difficulty in estimating false positive and false negative error rates. A major ongoing challenge was to find ways of joining disease databases and DNA databases, and how to ensure that specialists from different disciplines such as computer programmers, biologists, clinicians and biostatisticians could use their combined expertise to extract the required information from databases containing different types of information.

The National Library of Medicine (NLM) had a budget of $329 million and employed 1,330 staff and contractors, half of whom worked in bioinformatics. Their goals included seamless, uninterrupted access to expanding collections of biomedical data, medical knowledge and health information, and integrated biomedical clinical and public health information systems that promoted scientific discovery and speeded transition of research into practice. Ms Humphreys gave examples of databases that the NLM sponsored or collaborated with.


The best health care computer systems had evolved over time and had included bioinformaticians from the beginning. The major challenge was for the public to trust the data being centrally held rather than stored in local doctors' surgeries and hospitals. Due to the health care system in the US there was little appetite for a centralised record centre. However, natural disasters such as hurricane Katrina had prompted people to start thinking about a centralised system. The Committee was told how when Katrina struck, people's medical records were lost and those individuals in the middle of, for example, cancer treatment found great difficulties in continuing their treatment.

Session 7: Miscellaneous

Presentations by Dr Laura Rodriguez, Senior Advisor to the Director for Research Policy, NHGRI; Jean McEwen, Program Director, Ethical Legal and Social Implications, NHGRI; and Dr Raju Kucherlapati, Scientific Director, Harvard Medical School.

The Committee heard that the greatest public benefit would be realised if data from GWAS were made available, under terms and conditions consistent with the informed consent provided by individual participants, in a timely manner and to the largest possible number of investigators. Dr Rodriguez explored some of the ethical and policy questions during her presentation, for example, should individual results from basic GWAS be returned? How were the wishes of the individual participants respected? How could the public's trust be sustained? And what level of de-identification provided adequate confidentiality protection to participants without damaging the science? Immediate and unfettered access to all qualified users provided maximum opportunity for scientific progress. Confidentiality of research participants should be protected and their consent provisions respected. Equally, the need of investigators for academic recognition should be recognised. There was consensus that GWAS data should be released to the public at the earliest stage and be available for use by all.

Dr McEwen gave the Committee an overview of the different approaches possible when returning results to participants in genetic research studies. She discussed three different approaches: to disclose (almost) nothing, to disclose (almost) everything and a balancing/contextual approach. It was key that this issue should be considered carefully from the outset of the research and communicated to the relevant ethics committee so that the appropriateness of the plans could be assessed. Such plans could be communicated to participants as part of the informed consent process. In the context of these areas of debate, there was a clear consensus that there was a need for more social/behavioural research in this area.

Dr Kucherlapati highlighted the view that personalised medicine would revolutionise the way medicine was going to be practiced. However, there was a need for a shift in emphasis towards prevention and better strategies for early detection. For existing drugs and treatments, it was necessary to show that incorporating genetics and genomics in clinical decision making resulted in better outcomes. Regulatory agencies would need to take bold steps for implementation of personalised medicine and a comprehensive training and education plan would be needed.


Most new drugs were being developed in parallel with identification of biomarkers that predicted drug efficacy. These biomarkers could be developed into tests, the use of which might then become the norm. The cost of drug development should not increase because clinical trials that included a test of efficacy would be quicker and less expensive. Cohort size could therefore be smaller because efficacy and success rates would be higher. This approach could also bring into the market drugs that might otherwise have been shelved because of the low efficacy rate. The use of biomarkers in clinical trials may therefore increase efficacy to acceptable levels.

Genetic education would probably take place within individual specialties, because genetic counsellors currently mainly provided support for rare diseases and could not cope with the volume of counselling required for common diseases. Tools for online genetic education of healthcare professionals had been developed at Harvard and were potentially available worldwide.

Session 8: Training Needs in Genomics

Presentations by Joann Boughman, Executive Vice President, American Society of Human Genetics; Holly Peay, Associate Director, Genetic Counselling Training Program; Dr Jean Jenkins, Senior Clinical Advisor to the Director, NHGRI; and Professor Michael Rackover, Program Director and Associate Professor, Physician Assistant Program, Philadelphia University.

Dr Boughman described the different specialties and certifications available in the US, and the membership of the three main professional bodies that formed the genetics community: the American Society of Human Genetics; the American College of Medical Genetics, formed of practitioners of genetics; and the American Board of Medical Genetics, with certified professionals amongst their membership. There were great challenges ahead when training professionals in genetics: the knowledge and technologies were fast moving; 30 percent of Board-certified Genetics posts were not filled; and the integration of genetics into health care was driven by both consumer/patient demand and cost considerations. Health professionals were the ultimate arbiters of how and when (and if) new technologies and practices were integrated into health care.

The mission of the National Coalition for Health Professional Education in Genetics (NCHPEG) was to promote health professional education and access to information about advances in human genetics to improve the health care of the nation. They also provided a central educational resource for all health professionals and developed tools to educate health professionals and incorporate genetics into clinical practice. Their educational resources covered general guidance, such as core competences and principles in genetics, as well as specific topics, for example genetics and psychiatric disorders. Their audience was wide-ranging, from nurses, family physicians and physician assistants to dieticians. Ms Peay highlighted crowded curricula, inadequate representation of genetics on certifying exams, misconceptions about genetics, and lack of knowledgeable faculty as barriers to genetics education for health professionals.

Ms Jenkins talked about the current genetic/genomic education priorities and progress in nursing. There were 2.9 million practicing nurses in the US in 2004 and of those only 26.6 percent were under 40 years of age. Most faculty and practicing nurses have had no genetics or genomics education or training and genetic and genomic content was inconsistently incorporated into entry level nursing programmes and licensing exams. Ms Jenkins described a number of initiatives designed to increase genetic/genomic knowledge in nurses such as the development of core competencies and agreeing education priorities with the main stakeholders.

Professor Rackover gave an overview of the Physician Assistant (PA) profession in the US and their training in genetics and genomics. PAs were licensed to practise medicine under the supervision of a physician. The United Kingdom did not have an equivalent profession. Through various programmes and initiatives the Physician Assistant Education Association achieved a substantial increase in genetics enhanced curricula in PA training.


Public education was an area of the NIH that needed greater emphasis. A range of activities was taking place but public education programmes were not as robust as would have been ideal. Tools for educating the public about family history had been developed by the Surgeon General, the NIH and the Centers for Disease Control.

In certain areas the church could be a barrier to public education, in pre-natal testing for example. Some faiths such as Mormonism or Judaism had considerable emphasis on family history which was a rich source of medically relevant information. Some stand-alone training modules were described that were designed to train general physicians in analysing the medical significance of family history.

The scale of the training needs was huge because the number of healthcare professionals who were in contact with patients was very large and included general practitioners, nurses, genetic counsellors, etc. The quickest way of introducing genetics into the curricula was through the assessment system, but progress was inhibited by curricula being set locally by each medical school. If more genetics content was placed in mandatory exams, students would be compelled more rapidly to study genetics, but it would require medical geneticists to take on this task.

Session 9: Miscellaneous

Presentations by Dr Lawrence Lesko, Director, Office of Clinical Pharmacology, Center for Drug Evaluation and Research, Food and Drug Administration (FDA); Sharon Terry, President and CEO, Genetic Alliance; Professor Christine Seidman, Departments of Medicine and Genetics, Harvard Medical School; and Dr Greg Downing, Program Director, Personalized Health Care Initiative, US Department of Health and Human Services.

Dr Lesko described the activities of the FDA in giving approval to new drugs, and the opportunity for genomic knowledge and applications to be useful in new drug development and in improved use of previously approved drugs. He described the personalised healthcare initiative of the Department of Health and Human Services Secretary, Mike Leavitt, aimed at providing a conceptual foundation for policies in genomic medicine and pharmacogenomics. He drew attention to the fact that FDA approval for new drugs could be gained with only 30 percent efficacy and that genomic testing had the potential to increase these low efficacy rates. The FDA gave advice and instruction on labelling of drugs and Dr Lesko gave examples of recent changes in labels of drugs used in cancer therapy, lipid lowering and treatment of duodenal ulcer. Genomic tests were currently required for the prescription of six drugs, and recommended for a further six drugs.

Ms Terry described the founding of the non-for-profit organisation "Genetic Alliance" following the birth of her two children with the single-gene disorder pseudoxanthoma elasticum. She was listed as a co-discoverer of the gene for pseudoxanthoma elasticum and co-author of the Nature Genetics paper describing this discovery. The Genetic Alliance had patented the discovery of this gene and given all rights to the foundation in order to have stewardship of the discovery. The involvement of patients in biomedical research, and particularly the use of patient advocacy in drug trials was an important part of the Alliance's mission.

Professor Seidman discussed the opportunities and barriers with regard to genetic testing and heart disease in the context of an increasing prevalence of heart failure within an ageing population. She pointed out that interventions such as use of implantable cardiac defibrillators were driven largely by the funding available from insurance companies, and that genetic testing could lead to much more efficient use of such devices. She described the ways in which genetic screening could be applied effectively, particularly since the introduction of GINA into statute which had significantly advanced the opportunities for use of genetic testing in research and clinical practice.

Dr Downing described the vision of the Health and Human Services Secretary Mike Leavitt in moving towards personalised healthcare. Policy had been established in three main areas: research and development in genomic and molecular medicine; adoption and networking of health information technology; and accelerated development and use of a genomic evidence base. A two year time-line for personalised healthcare had been developed that included improved delivery, data integration, improved health information technology, and expansion of the science base. Policy actions already in place included an executive order in 2004 to establish a priority for electronic health records and the signing into law of GINA in 2008. GINA aimed to prevent discrimination in employment and health insurance coverage. Recommendations were also being drawn up to develop a plan for genetic screening of newborn infants and for use of pharmacogenetics tests.


It was recognised that newborn screening by genetic tests was not a priority and that such tests could not be moved easily from the place of testing. Moving information across States was specifically prohibited. However screening for hearing disorders was currently complete in 84 percent of newborn infants. Currently screening was motivated by financial priorities but should be evidence-based as it was in the US academic health science centers. The small size of biobanks in the USA was noted compared to the very large biobanks in other countries. It was pointed out that work on systems for genetic testing was fragmented, with little coordination across the wide range of common diseases for which genetic testing was applicable.

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