Abstract
Information currently available to the public is inadequate to support those deciding to consent to a genetic test. As genetic knowledge continues to evolve, more people will be forced to consider the complex issues raised by genetic testing. We developed and tested criteria to guide the production and appraisal of information resources produced for the public on genetic testing. Lay people with and without experience of a genetic condition, and providers and producers of health information appraised and listed the criteria they used to rate the quality of a sample of information on cystic fibrosis, Down's syndrome, familial breast cancer, familial colon cancer, haemochromatosis, Huntington's disease, sickle cell disease, and thalassaemia. These genetic conditions represent different populations, disease pathways, and treatment decisions. The information medium could be written, electronic, CD, audio or video. The quality criteria were tested iteratively (using the weighted kappa statistic) for the level of agreement between users applying successive drafts of the criteria to different samples of information. The final set of criteria consisted of 19 questions plus an overall quality rating. Chance corrected agreement (weighted kappa) among the appraisers for the overall quality rating was 0.61 (0.60–0.62). The criteria cover the scope of the information resources, information on the condition, the test procedure and results, decision making, and the reliability of the information. The DISCERN-Genetics criteria will guide the production and appraisal of information produced for the public, and will facilitate the involvement of the public in decisions around genetic screening and testing.
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Notes
Each person carries two copies of every gene. In a recessive condition BOTH copies of the gene must be altered to cause the condition or disease. If a person has an alteration in only one of the recessive genes that person will not have the condition in question but may pass the altered gene onto their children. This person is called a CARRIER.
This is an operation to remove all breast tissue in women who are at high risk of developing breast cancer due to a hereditary cause. The removal of breast tissue reduces the risk of developing breast cancer in these women.
If a gene is altered it may not work properly, and this can lead to a disease or condition. Such a (faulty) gene is referred to as a mutation.
A test in children or adults for disorders that do not produce symptoms of the condition until the individual affected has reached maturity or later adult life.
A genetic test that provides information in the form of a predictive diagnosis – i.e. the possibility or likelihood that the disease in question will develop. These tests can be carried out at the pre-natal stage, during childhood or on adults.
Each person carries two copies of every gene. In a recessive condition BOTH copies of the gene must be altered to cause the condition or disease. If a person has an alteration in only one of the recessive genes that person will not have the condition in question but may pass the altered gene onto their children. This person is called a CARRIER.
The result of the test is negative, but this is an error and the real result is positive.
The result of the test is positive, but this is an error and the real result is negative.
Genetic tests sometimes reveal that the man who is thought to be the child's father is not the child's biological father.
References
Glenton C, Paulsen EJ, Oxman A : Portals to Wonderland: health portals lead to confusing information about the effects of health care. BMC Med Inform Decis Making 2005; 5: 1–8.
Geller G, Bernhardt BA, Holtzman NA : The media and public reaction to genetic research. JAMA 2002; 287: 773.
Loeben GL, Marteau TM, Wilfond BS : Mixed messages: presentation of information in cystic fibrosis-screening pamphlets. Am J Hum Genet 1998; 63: 1181–1189.
Godard B, Kaariainen H, Kristoffersson U, Tranebjaerg L, Coviello D, Ayme S : Provision of genetic services in Europe: current practices and issues. Eur J Hum Genet 2003; 11: S13–S48.
Beskow LM, Burke W, Merz JF et al: Informed consent for population-based research involving genetics. JAMA 2001; 18: 2315–2321.
Guyatt G, Rennie D : Users Guides to the Medical Literature. AMA Press, 2002.
Shepperd S, Charnock D, Gann B : Helping patients access high quality health information. BMJ 1999; 319: 764–766.
Criteria for Assessing the Quality of Health Information on the Internet http://hitiweb.mitretek.org/docs/policy.html (accessed May 2006).
eEurope 2002: Quality Criteria for Health Related Websites. J Med Internet Res 2002; 4: E15.
Eysenbach G, Powell J, Kuss O, Sa ER : Empirical studies assessing the quality of health information for consumers on the world wide web: a systematic review. JAMA 2002; 287: 2691–2700.
Charnock D, Shepperd S, Gann B, Needham G : DISCERN – an instrument for judging the quality of consumer health information on treatment choices. J Epidemiol Commun Health 1999; 53: 105–111.
Griffiths KM, Christensen H : The quality and accessibility of Australian depression sites on the World Wide Web. Med J Aust 2002; 176 (Suppl): S97–S104.
Bessell TL, Anderson JN, Silagy CA, Sansom LN, Hiller JE : Surfing, self-medicating and safety: buying non-prescription and complementary medicines via the internet. Qual Saf Health Care 2003; 12: 88–92.
Godolphin W, Towle A, McKendry R : Evaluation of the quality of patient information to support informed shared decision-making. Health Expect 2001; 4: 235–242.
Jefford M, Tattersall MHN : Informing and involving cancer patients in their own care. Lancet Oncol 2002; 3: 629–637.
Molassiotis A, Xu M : Quality and safety issues of web-based information about herbal medicines in the treatment of cancer. Complement Ther Med 2004; 12: 217–227.
Gimenez-Perez G, Caixas A, Gimenez-Palop O, Gonzalez-Clemente JM, Mauricio D : Dissemination of patient oriented evidence that matters on the internet: the case of type 2 diabetes treatment. Diabetic Med 2005; 22: 688–692.
Jefford M, Gibbs A, Reading D : Development and evaluation of an information booklet/decision-making guide for patients with colorectal cancer considering therapy in addition to surgery. Eur J Cancer Care (England) 2005; 14: 16–27.
Sanger S, Nickel J, Huth A, Ollenschlager G : Well-informed on health matters – how well? The German ‘Clearinghouse for Patient Information’ – objective, background and methods. Gesundheitswesen 2002; 64: 391–397.
Ellison GTH, Wiggins M, Stewart R, Thomas J : The HIVSA Training Manual: Evaluating Educational Interventions for HIV Prevention in Southern Africa. London: Social Science Research Unit, University of London, 2001.
Charnock D, Shepperd S : Learning to DISCERN online: applying an appraisal tool to health websites in a workshop setting. Health Educ Res 2004; 19: 440–446.
Trevena LJ, Davey H, Barratt A, Butow P, Caldwell P : Communicating evidence to patients. Evidence-Based Paediatrics and Child Health, London: BMJ books 2004.
Knight ST : The Popular Medical Index. Letchworth: Meade Publishing, 1996.
Streiner DL NGR : Health measurement scales: a practical guide to their development and use. Oxford: Oxford University Press, 1995, pp 15–27.
Fleis JL : The measurement of inter rater agreement. Statistical methods for rates and proportions. New York: John Wiley, 1981, pp 212–236.
Schwartz LM, Woloshin S, Black W, Welch HG : The role of numeracy in understanding the benefit of screening mammography. Ann Intern Med 1997; 127: 966–972.
Vuckovic N, Harris EL, Valanis B, Stewart B : Consumer knowledge and opinions of genetic testing for breast cancer risk. Am J Obstet Gynecol 2003; 189: S48–S53.
Hargreaves K, Stewart R, Oliver S : Newborn screening information supports public health more than informed choice. Health Educ J 2005; 64: 110–119.
Hiller EH, Landenburger G, Natowicz MR : Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States. Am J Public Health 1997; 87: 1280–1288.
Deschenes M, Cardinal G, Knoppers BM, Glass KC : Human genetic research, DNA banking and consent: a question of ‘form’? Clin Genet 2001; 59: 221–239.
Acknowledgements
We thank the The Wellcome Trust for funding the study.
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Appendix A. DISCERN-Genetics Quality Criteria (this will be available on discern-genetics.org.uk at the time of publication)
Appendix A. DISCERN-Genetics Quality Criteria (this will be available on discern-genetics.org.uk at the time of publication)
The rating scale
Each question is rated on a five-point scale ranging from No to Yes. Show your answer to each question by circling one point on the scale. The rating scale is designed to help you assess if the quality criteria in the questions are present or have been ‘fulfilled’ by the publication.
General guidelines are as follows:
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5 should be given if your answer to the questions is a definite ‘yes’ – the quality criterion has been completely fulfilled
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Partially (2–4) should be given if you feel the information being considered meets the criterion in the question to some extent. How high or low you rate ‘partially’ will depend on your judgment of the extent of these shortcomings
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1 should be given if the answer to the question is a definite ‘no’ – the quality criterion has not been fulfilled at all
Hints
A number of hints are given to each question. These are designed to provide you with things to consider when deciding your response to a question. The hints should act as a guide rather than as hard and fast rules and your own judgment will also be important.
Question 20 is the overall quality rating at the end of the questionnaire. Your answer to this question should be based on your judgment of the quality of the publication as a source of information about treatment choices after rating each of the preceding 19 questions. However, you should only rate a publication as good quality if it rated well on the majority of questions.
You may find it easiest to read the information fully before answering the DISCERN-Genetics questions.
Hint: Look for a clear indication in the information of
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what it is about
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what it is meant to cover (and what topics are excluded)
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who might find it useful
Note: It may be necessary to search for the aims especially in web based information
If the answer to question 1 is ‘No’, go directly to question 3
Hint: Consider if it provides the information it aimed to, as outlined in question 1
Hint: Look for a description of the condition, which may include
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the problems it can cause
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who it affects
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the symptoms
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how common it is
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how often it occurs in different populations
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an explanation of how the condition runs in a family
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a description of the difference between being a carrierFootnote 1 and having the condition
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a description of the predicted course of the condition
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details of any complications
Hint: Look for information on
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how the condition is treated
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any procedure for referral to a specialist
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how symptoms can be reduced
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how well the treatment works
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a description of possible complications of treatment
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any implications for having children
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other interventions available e.g. prophylactic mastectomyFootnote 2, termination of pregnancy
Hint: Does the information explain the risk of developing, carrying or passing on the condition. Look for
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a reason as to why the reader might be at specific risk
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a description of the risk of having the faulty geneFootnote 3 compared with the risk of not having the faulty gene
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an explanation of the chance that the condition will not develop
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a comparison of the risk of developing the condition with the risk of getting other diseases or of other events occurring
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an explanation of risk in alternative formats e.g. 1 in 2 or 50%
Hint: Look for an explanation on the type of tests available or being offered. Is the test being done:
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to confirm a diagnosis where symptoms already exist (diagnostic test)
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to predict whether someone with a family history of a condition will develop the condition (presymptomatic testFootnote 4 e.g. Huntington's disease) or is likely to develop the condition (predictive testFootnote 5 e.g. familial breast cancer)
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to check whether someone is a carrier for a recessive disorderFootnote 6 (screening test)
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to screen for genetic disorders during pregnancy (i.e. a test of the fetus)
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to screen for genetic disorders in the newborn
Hint: Look for an explanation on
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how the test is performed
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where you go to have the test
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if it hurts when you have the test
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the safety/risk of the procedure
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the waiting time for results
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whether the test is a standard test, part of a research programme, or if you have to pay for the test
Hint: look for areas of uncertainty in testing, for example
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an explanation as to how tests fail e.g. human error and laboratory error
Look for
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a description of the meaning of false negativeFootnote 7 and false positiveFootnote 8 test results
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any evidence of local variations in laboratory results
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an explanation that a repeat test may be needed, and why
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an acknowledgement of any limitations of testing
Hint: Look for
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an explanation of follow up procedures
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a description of who gives the results
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a description of how the results are received
Hint: Does it describe who will have access to your test results e.g. other health care professionals
Hint: Look for suggestions of things to discuss with family, friends, doctors, or other health professionals concerning testing and screening
Hint: Does the information describe the implications of discrimination arising from the test result, especially on insurance and employment issues
Hint: Check whether the information takes into account
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the emotional consequences
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the social consequences
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the fact that the test may increase anxiety
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that a range of reactions are possible and normal
Hint: Check whether the information takes into account
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what being at increased risk might mean to the person being tested and their family
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the emotional consequences for the family
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the implication for relationships e.g. embarrassment, shame, anger, and strained relationships may all be normal outcomes
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that different people have different reactions
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that misattributed paternityFootnote 9 may be discovered
Hint: Look for links to other sources of information, e.g. references in the text, websites, other literature, telephone numbers, postal addresses, help lines, support groups, other health professionals.
Hint: Check whether the main claims or statements are accompanied by a reference to the sources used as evidence. Look for
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a means of checking the sources used such as a bibliography, a list of references or addresses of any experts or organisation quoted
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a reference to a current guideline on which the information is based
Hint: Look for
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dates of the main sources of information used to compile the publication
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the date of the publication and any revision
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an updating policy – particularly on internet sites
Hint: Look for
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a clear indication of whether the information is written from a personal or objective point of view
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evidence that a range of sources of information was used to compile the publication (e.g. more than one research study or expert)
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evidence of an external assessment of the publication
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a statement of the affiliation of the author
Be wary if
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the information focuses on the advantages or disadvantages of one particular test without reference to other possible choices
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the information relies primarily on evidence from a single case which may not be typical of people with the condition
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the tone of the information is inappropriate e.g. it is presented in an sensational, emotive or alarmist way
The following question may not be relevant to all information. If this is the case please circle Not Applicable (N/A).
Hint: Look for any geographical relevance
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are any geographical differences in service provision outlined e.g. test availability
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does it have to be paid for privately or is it free
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Shepperd, S., Farndon, P., Grainge, V. et al. DISCERN-Genetics: quality criteria for information on genetic testing. Eur J Hum Genet 14, 1179–1188 (2006). https://doi.org/10.1038/sj.ejhg.5201701
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DOI: https://doi.org/10.1038/sj.ejhg.5201701
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