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Informed Consent and Multiplex Genetic Screening

  1. Denise Avard1,
  2. Eef Harmsen2

Published Online: 15 JAN 2010

DOI: 10.1002/9780470015902.a0005642.pub2

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How to Cite

Avard, D. and Harmsen, E. 2010. Informed Consent and Multiplex Genetic Screening. eLS.

Author Information

  1. 1

    McGill University, Québec, Canada

  2. 2

    Genome Quebec, Montréal, Québec, Canada

Publication History

  1. Published Online: 15 JAN 2010

Introduction

  1. Top of page
  2. Introduction
  3. Screening
  4. Why Informed Consent for Multiplex Genetic Screening Requires Social and Ethical Considerations
  5. Emerging Issues Made Relevant by the Availability of Multiplex Genetic Testing
  6. Conclusions
  7. Acknowledgements
  8. References
  9. Further Reading
  10. Web Links

Over the past 30 years, scientists have discovered and investigated gene variants involved in single-gene diseases. Many of these relatively rare gene abnormalities had severe consequences and tests were designed to identify individuals who would develop the disease as well as identify genetic carriers. Multiplex screening allows for simultaneous testing for multiple genetic conditions in a single sample. For example, with tandem mass spectrometry (TMS) it is possible to detect more than 40 different inborn errors of metabolism such as phenylketonuria, tyrosinemia type I, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and others. This technology is integral to several newborn screening programmes worldwide (Wilcken, 2007; The President's Council on Bioethics, 2008).

Sequencing the human genome, followed by the International HapMap Project and the development of large-scale genotyping technologies (e.g. gene chips with >1 million SNPs per sample are available) have enabled the association and identification of genes involved in complex diseases in a nonbiased way. Genome-wide association studies (GWAS) have now identified hundreds of commonly occurring gene variants which increase the risks in common complex conditions such as Type I/II diabetes, Crohn disease, coronary artery disease and several forms of cancers. Furthermore, developments such as expression arrays allow the identification of genes active in normal and disease cells. This technique has been used to help diagnose several forms of cancers and is expected to become more important in the near future.

Genotyping and expression chips allow characterization of a sample on a genome-wide scale. This means that with one genotyping chip, hundreds of thousands of gene variants can be measured simultaneously per sample and gene expression of all known genes can be measured simultaneously. This is, therefore, the ultimate multiplexing approach and creates a new level of complexity because the modes of heredity, social implications and availability of treatment can differ greatly among the conditions tested. The genome-wide genotyping is extensively used not only in the research setting, but also by a rapidly growing number of direct-to-consumer (DTC) genetic testing companies (Borry and Howard, 2008). At the moment, the genomes of 1000 people are being sequenced (http://www.1000genomes.org/page.php). In the foreseeable future, large parts of individual sequences will be available for diagnostic purposes (http://www.knome.com/home/) in a fraction of the time and with a fraction of the money.

These advances in human genomics may allow individuals to use their genetic information to reduce the risk of serious diseases as well as adopt preventive strategies to cope with common chronic conditions and, most importantly, allow the targeting and tailoring of medical care to a person's need (Sadee, 2008).

Some clinics offer to screen prenatally for carrier status for recessive disorders in populations considered at high risk, such as for Tay–Sachs disease, cystic fibrosis and Gaucher disease (Grody, 2003). These diseases have long been the prototypes of selective carrier screening programmes targeting individuals in particular populations that are at increased risk for these specific genetic disorders. Even more complex is the genetic ‘profiling’ provided by DTC companies. They provide the client with a genetic risk profile dependent on the presence or absence of certain SNPs (single nucleotide polymorphisms) which have been found to influence risks, mainly for complex diseases. Also, diagnostic and research efforts are offered for embryos created by in vitro fertilization (Baruch et al., 2008).

Because of the rapid development and application of the new technology, these services raise several social and ethical issues ranging from genetic exceptionalism to the shortage of genetic counsellors and clinicians trained to interpret either the risk for a genetic condition, a heightened susceptibility for a disease or to determine carrier status (Green and Botkin, 2003). Moreover, to provide complex genetic, medical and technical information in an understandable manner raises additional challenges. Especially for complex diseases, the nature (severity and degree of disorder) and age of onset of the disease are important factors that need to be accounted with regard to testing, education, counselling and informed consent. Furthermore, the new technologies create the potential for incidental findings because of their ability to identify conditions that were not part of the original examination (Tabor and Cho, 2007). When working with new high-throughput genotyping technologies, the potential for analysis grows and this raises concerns about what information to communicate to the participants, what standards to adopt for providing research results and the potential harm such as excessive anxiety or a false sense of security or possible breech of confidentiality.

All these ethical issues raise concerns about what safeguards are available to address the potential challenges associated with the new technologies, such as tandem mass spectrometry, biochip and microarrays. Considerable concern has been expressed about the use of these multiplex technologies to detect diseases sometimes of known and unknown clinical significance (American Medical Association, 1998; The President's Council on Bioethics, 2008; National Human Genome Research Institute, 2008). A key obligation for the health professionals providing genetic services is to respect the patients’ right to self-determination and to help them make an informed decision without pressure. Similar issues arise in a genomic research context and in the DTC environment (Tabor and Cho, 2007). All these reasons have important implications for the informed consent process to multiplex screening (see Web Links for European Society of Human Genetics; Human Genetics Commission and The New York State Task Force on Life and the Law; Borry and Howard, 2008)

Screening

  1. Top of page
  2. Introduction
  3. Screening
  4. Why Informed Consent for Multiplex Genetic Screening Requires Social and Ethical Considerations
  5. Emerging Issues Made Relevant by the Availability of Multiplex Genetic Testing
  6. Conclusions
  7. Acknowledgements
  8. References
  9. Further Reading
  10. Web Links

Genetic screening refers to the programmes directed either to whole populations or subpopulations such as pregnant women or newborns, in order to identify individuals at risk of developing a specific disorder. Persons with a positive screening test might or might not be aware of their risk, and normally will be referred for further testing. In contrast, screening high-risk individuals because of a personal or family history for a specific disease means these individuals are normally aware that their potential risk is higher.

Newborn population screening, at the moment, involves testing all newborns for a variety of conditions such as phenylketonuria, haemoglobinopathies or galactosemia, in order to identify a disorder or disorders that require immediate treatment or prevention. Although initially newborn screening was limited to a small number of disorders, newborn screening is expanding to include disorders where the appropriate course of treatment is uncertain (McCabe and McCabe, 2008).

Reproductive genetic screening for carrier status for autosomal recessive disorders such as Tay–Sachs disease and cystic fibrosis includes preconception or prenatal carrier screening and is most often carried out during the prenatal period. The use of multiplex screening as a preventative tool may be offered as a population-wide prenatal genetic screening programme or be focused on particular ethnic groups such as individuals of Ashkenazi Jewish background (Bassett et al., 2004; Eng et al., 1997; Kronn et al., 1998). Such approaches may be beneficial, particularly if addressing ethical, clinical, political and economic dimensions. However, targeted screening of certain ethnic groups may become less effective in the future as cultural self-identification evolves or changes because of population mobility. The possibility of selective abortion poses social and ethical challenges including the potential to prevent the existence of people with disabilities, as well as to reduce tolerance towards people with disabilities (Shakespeare, 2005).

When considering the application of the new technologies in the clinical or research context, it is important to convey information that promotes informed choices. The informed consent process is a basic ethical requirement both for research (Caulfield et al., 2008) and before a medical treatment or predictive test (Dickens, 1994). It aims to give information about the available options, details about the test, possible outcomes and the possible risks and benefits. In the context of research, details about the study design and implementation are communicated. During the informed consent process, it is important to carefully consider the individual's desires and beliefs, protect the confidentiality and privacy of the personal health information, and offer proper counselling regarding the relevance of the information.

Why Informed Consent for Multiplex Genetic Screening Requires Social and Ethical Considerations

  1. Top of page
  2. Introduction
  3. Screening
  4. Why Informed Consent for Multiplex Genetic Screening Requires Social and Ethical Considerations
  5. Emerging Issues Made Relevant by the Availability of Multiplex Genetic Testing
  6. Conclusions
  7. Acknowledgements
  8. References
  9. Further Reading
  10. Web Links

There are several reasons why informed consent for multiplex screening raises special considerations in the clinic or in the research context. First, multiplex screening generally reveals more information than expected and may expose information not necessarily linked to the condition under investigation. Second, as genetics and multiplex technologies become increasingly integrated in medical care (Collins et al., 2003) they will become more and more essential in the clinic (Lango and Weedon, 2008). However, the application of genome-wide testing in a clinical context and particularly in susceptibility testing for common complex diseases will raise ethical issues for clinicians and their patients (Tabor and Cho, 2007). Some of the concerns that have been expressed by patients include the need to know whether the disease will develop; what are the risks for the offspring; the possible psychosocial effects of being overly stressed by a positive result and doubts about their wish to know or not to know the results (Bidoli et al., 2007).

Third, the expectation that physicians will know about the potential risks and will be able to convey this information to the patient will also be not insignificant. These issues are especially important since primary care physicians and a broad range of healthcare workers (e.g. nurses, psychologists and genetics specialists) will be expected to understand the possible long-term psychological and social consequences of learning about genetic risks. Major professional organizations including the National Coalition for Health Professional Education in Genetics (NCHPEG) generally recognize the important role of health professionals to communicate information to the patient (see Web Links NCHPEG). Likewise, because the public's understanding of genomics is minimal (Bates, 2005), it will be important to educate and engage them in the discussion about how to proceed with the new technologies (Bailey et al., 2008). Although in the case of newborn screening most agree that it is appropriate to offer screening for disorders where early treatment makes a difference, some (Botkin et al., 2005; The President's Council on Bioethics, 2008) express concern over the use of TMS. They warn society to stand firm against efforts requiring that newborns be tested for a growing number of conditions, some of which have no known treatment. If no treatment is available, the purpose of screening remains questionable and gives rise to ethical and social concerns.

There are several other major factors that raise ethical and social issues. The goal for multiple genetic screening ranges from helping to make a reproductive choice or a lifestyle changes. For example, predictive testing for conditions without treatment such as Huntington disease and carrier testing for autosomal recessive disorders like thalassaemia and cystic fibrosis allows persons of childbearing age to make informed reproductive choices.

As the scope of screening expands and technology is developed to predict and diagnose late-onset disorders that have no treatment or cure, new questions arise: will this knowledge affect the individual's notion of being healthy or diseased? What should be done when the probability, severity and onset of the disease contains a high degree of uncertainty? For instance, a woman with a mutation for the hereditary form of breast cancer (BRCA1/2) is not determined to develop breast or ovarian cancer and often unknown factors do play a role. Conversely, a woman without a BRCA1/2 mutation still has a chance to develop breast cancer; again, the reasons are often unknown. This should be discussed during the informed consent process, not only in the case of single-gene diseases of an early and late onset, but also for complex disorders, because patients may not want to know all the results, especially if there is only a partially effective treatment or no treatment at all. For instance, the fact that the Nobel prize winner James Watson allowed his fully sequenced genome to be published with the exception of the variants of apolipoprotein E (APOE), which are considered risk factors for the development of Alzheimer disease, is significant (Nyholt et al., 2009).

Finally, obtaining informed consent for multiplex or genome-wide testing raises numerous challenges given the complexity of the information, the occasionally questionable validity of the tests, the availability and access to treatments and the potential different emotional, psychological, medical, social and economic consequences of the information. Inevitably, several pretesting sessions may be needed to deal with this complexity and this is a problem considering the current shortage of available services and genetic counsellors and other health professionals who have an appropriate working knowledge of clinical genetics.

The obligation to obtain consent is unanimously recognized in research and is an ongoing process (Council for International Organizations of Medical Sciences, 2008). Implementing such an ongoing process includes, for example, carefully informing the participants about the study; explaining terms in an understandable language; explaining opting in or out for additional genetic testing or withdrawing from the research; providing both traditional and electronic communication channels (e.g. face-to-face meetings or through websites); respecting the right to know or not to know and adjusting the protocol to individual needs (Mascalzoni et al., 2008; Nicolas, 2009).

Broad consent: a solution?

Broad consent from a person implies that an all-purpose consent to multiplex screening is sufficient and that it is not necessary for the patient to consent to each test on the panel. Although broad consent is seen as an expedient approach, it is not a substitute for informed consent and Andrews et al. 1994 states that for patients to make a fully informed decision, information describing each of the tests in the panel should be offered. However, ultimately if this is impractical – especially for genome-wide tests because the range of disorders on the panel is too broad – the amount of information is either too confusing or troublesome to the patient, and if there is a risk of information overload, then the patient should be offered a broad consent (Elias and Annas, 1994; Carroll and Coleman, 2001). The essence of broad consent is that it should be meaningful and helpful, for instance, by only testing for groups of abnormalities with similar implications (Andrews et al., 1994). For instance, it is recommended that when testing for reproductive carrier status, the tests placed on the multiplex panel should be for diseases of similar seriousness (see Web Links for New York State Task Force on Life and the Law). Similarly, prenatal genetic tests to diagnose lethal conditions and seriously disabling disorders should be offered together, and pretest counselling for the growing volume of prenatal tests should be grouped according to the type of disorders (World Health Organization, 2001).

However, perhaps because of the novelty of the tests and the difficulty of addressing the severity (Wertz and Knoppers, 2002), there is less agreement on what tests to group together. Forming multiplex panels may be a controversial process, also because of the lack of agreement regarding whether the condition is treatable or not. For example, when providing information about cystic fibrosis, some see the condition as fatal, whereas others see it as a serious disorder where the extent of the symptoms varies. Some may consider screening for carrier status as expanding reproductive options, whereas others see it as increasing the risk of stigmatization or as a form of eugenics.

According to the New York Task Force on Life and the Law (see Web Links), tests included on the panel of grouped disorders should meet all of the established components of a screening test, such as (1) being completely voluntary, having adequate and established analytical and clinical validity, with counselling offered pre- and post-test and accompanying education and measures to protect confidentiality; (2) patients are informed, before testing, that more detailed information about each test is available and (3) patients are given an opportunity to obtain that information before testing either from the healthcare provider offering the multiplex panel or from another healthcare professional. Another important consideration when grouping related disorders is that the distinctive features of the grouped information should be made clear before consent is obtained (Advisory Committee on Genetic Testing, 1998; see Web Links to Human Genetics Commission).

However, at the moment, it is not clear what criteria will be used for grouping tests. Some have suggested grouping disorders according to: the type of disorder (for example neurological, cardiovascular); whether disorders are treatable or untreatable and whether comparable demands for informed consent, education and counselling may be offered together.

The development of technologies that improve genome-wide sequencing has increased the researcher's capacity to ask new questions and to simultaneously screen for thousands of mutations, with little cost for each disorder (Tabor and Cho, 2007). Alongside, there are biobanks for genomic research, such as in the case of the United Kingdom, Iceland and the CARTaGENE initiatives (see Web Links) which stimulate such genomic research. This raises concerns about informed consent particularly when it is unclear what will be tested. One approach might include a broad consent, implying that there are no restrictions to the scope and duration of the consent (Lunshof et al., 2008). But questions arise about whether such a broad consent is appropriate from an ethical perspective (Mascalzoni et al., 2008). Considering this, the Council for International Organizations of Medical Sciences 2008 suggests that a broad consent should be sought only when specific studies are reviewed by a research ethics committee and the data and sample are kept anonymous .

Emerging Issues Made Relevant by the Availability of Multiplex Genetic Testing

  1. Top of page
  2. Introduction
  3. Screening
  4. Why Informed Consent for Multiplex Genetic Screening Requires Social and Ethical Considerations
  5. Emerging Issues Made Relevant by the Availability of Multiplex Genetic Testing
  6. Conclusions
  7. Acknowledgements
  8. References
  9. Further Reading
  10. Web Links

In government-funded services, any use of new resources can raise concerns. As the technology for deoxyribonucleic acid (DNA) chips or high throughput sequencing develops, the cost will decrease. This will enhance the attraction for genetic screening and policy-makers hoping to control health service costs may see multiplex screening as a cost-effective way of carrying out testing. However, cost-effectiveness should not be the only major factor driving the implementation of multiplex testing. Similarly, individuals should not be pressured to take up these services to serve the collective interests of society, especially when genetic screening will become a ‘routine’ procedure. Just by being offered the screening programme, patients may assume it is necessary and may unquestionably accept the tests (British Medical Association, 1998).

Although, until recently, prenatal testing has dealt primarily with diagnosing conditions that are seriously disabling, with multiplex genetic testing, the debate will amplify, especially regarding testing for less serious disorders. Consensus has not fully emerged on the appropriate use of multiplex genetic screening tests in prenatal clinics (British Medical Association, 1998).

Multiplex screening has moved to the realm of fertility clinics to allow couples to screen their test-tube embryos for the presence or absence of abnormal genes. There is a growing interest in pre-implantation diagnosis (PGD) through In Vitro Fertilization (IVF) as it has obvious advantages to people who want to avoid an abortion. Once a rare alternative to prenatal genetic testing, PGD is considered a fast developing practice in reproductive genetics and IVF clinics. Some are concerned that parents could use genetic testing of embryos to possibly select one's future children based on common diseases or nonmedical genetic characteristics (Baruch et al., 2005). The future use of selective PGD will no doubt raise important questions about its utility and whether it should be limited to only certain genetic conditions. Should clinics screen to eliminate lethal conditions like Huntington disease or muscular dystrophy – or also for lesser life-threatening predispositions to disorders such as cancer and diabetes? Is it ethical to eliminate embryos because of a predisposition to late-onset disorders, for complex diseases or for diseases that may never happen, where there may be a cure within a generation and where there is a possibility of intervention?

Finally, who should be taking the decision about which disorders to include on a multiplex test panel: clinicians, biotechnology companies, consumers or health services providers? An effective approach is to invite the public to participate in the development process by which tests are added or removed from the panel. The same holds true for policy-makers who must be grounded in the most informed research and opinion before formulating their policies. International guidelines addressing the need for a broad-based approach to guideline development have been published, and the HumGen website provides easy access to such policies from all over the world. See also Genetic Carrier Testing, Genetic Counseling Consultations: Uncertainty, Informed Consent in Genetics, Informed Consent in Human Genetic Research, and Predictive Genetic Testing: The Huntington Disease Model

Conclusions

  1. Top of page
  2. Introduction
  3. Screening
  4. Why Informed Consent for Multiplex Genetic Screening Requires Social and Ethical Considerations
  5. Emerging Issues Made Relevant by the Availability of Multiplex Genetic Testing
  6. Conclusions
  7. Acknowledgements
  8. References
  9. Further Reading
  10. Web Links

Our review of social and ethical issues concerning multiplex screening suggests certain needs:

  1. Careful attention should be paid to the issue of informed consent. Patients must be aware that testing will group different disorders and that test results may reveal incidental findings.

  2. Pretest counselling should describe the categories of the disorders as well as the advantages and disadvantages of learning this information.

  3. The grouping of the different tests to be carried out simultaneously is a key concern and necessitates careful evaluation of the social, ethical and legal risks of these panels.

  4. Broad consent may be appropriate when multiplex testing is to be done for diseases involving similar issues and implications.

  5. A number of emerging issues such as the future use of multiplex screening in fertility clinics, especially regarding complex diseases, will no doubt raise important social and ethical questions.

Acknowledgements

  1. Top of page
  2. Introduction
  3. Screening
  4. Why Informed Consent for Multiplex Genetic Screening Requires Social and Ethical Considerations
  5. Emerging Issues Made Relevant by the Availability of Multiplex Genetic Testing
  6. Conclusions
  7. Acknowledgements
  8. References
  9. Further Reading
  10. Web Links

This article was supported by the Canadian Institutes of Health Research for the project ‘CIHR Team of Prediction and Communication of Familial Risk of Breast Cancer’ and the Genome Canada and Genome Quebec for the Project Genomics and Public Health.

End Notes
  1. Based in part on the previous version of the Encyclopedia of Life Sciences (ELS) article, Informed Consent and Multiplex Screening by Denise Avard and Linda Kharaboyan.

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  1. Top of page
  2. Introduction
  3. Screening
  4. Why Informed Consent for Multiplex Genetic Screening Requires Social and Ethical Considerations
  5. Emerging Issues Made Relevant by the Availability of Multiplex Genetic Testing
  6. Conclusions
  7. Acknowledgements
  8. References
  9. Further Reading
  10. Web Links
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Further Reading

  1. Top of page
  2. Introduction
  3. Screening
  4. Why Informed Consent for Multiplex Genetic Screening Requires Social and Ethical Considerations
  5. Emerging Issues Made Relevant by the Availability of Multiplex Genetic Testing
  6. Conclusions
  7. Acknowledgements
  8. References
  9. Further Reading
  10. Web Links
  • Atkinson K, Zuckerman B, Sharfstein JM et al. (2001) A public health response to emerging technology: expansion of the Massachusetts newborn screening program. Public Health Reports 116: 122131.
  • Austoker J (1999) Gaining informed consent for screening. British Medical Journal 319: 722723.
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  • Hiller EH, Landenburger G and Natowicz MR (1997) Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States. American Journal of Public Health 87: 12801288.
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  • Ross LF (2001) Genetic services for children: who should consent? In: Mahowald MB, McKusick VA, Scheuerle AS and Aspinwall TJ (eds) Genetics in the Clinic: Clinical, Ethical, and Social Implications for Primary Care, pp. 167179. St Louis, MO: Mosby.
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Web Links

  1. Top of page
  2. Introduction
  3. Screening
  4. Why Informed Consent for Multiplex Genetic Screening Requires Social and Ethical Considerations
  5. Emerging Issues Made Relevant by the Availability of Multiplex Genetic Testing
  6. Conclusions
  7. Acknowledgements
  8. References
  9. Further Reading
  10. Web Links