What do Patients Prefer: Informed Consent Models for Genetic Carrier Testing

Abstract

The recent increased number of conditions for which patients can undergo genetic carrier testing raises the question of how best to obtain pre-test informed consent. Clinical approaches vary from a minimalist model to a model where patients are given detailed information about all conditions to be screened for. Few data exist as to patient preferences, or how information impacts decision-making. Eight high-literacy focus groups were conducted to assess the knowledge and preferences of pregnant patients and their male partners. Most groups indicated that some balance between details and brevity was optimal, recognizing that anxiety can occur when patients are provided with too much information and that the wide range of tests offered during pregnancy often led to confusion. Critical areas for the informed consent process included (1) details about the conditions and risk of being a carrier, (2) logistics of testing, (3) next steps if the test is positive, and (4) prognosis, options and resources if the child were to be affected with a disorder. It will be useful to develop model consent programs and prospectively assess their impact on informed consent and patient satisfaction, both when positive and negative results are received.

Carrier screening in preconception consultation in primary care

“…These authors have also reported that many would prefer to be tested for haemoglobinopathy carrier status before conception (Locock and Kai 2008). In the USA (Ormond et al 2007) and Australia (Cousens et al 2010), prenatal carrier screening for haemoglobinopathies occurs ad hoc, yet there are similar findings regarding the lack of awareness of screening. In practice, screening of the population for haemoglobinopathy carrier status may occur incidentally in primary care as a result of blood being taken for other reasons.…”

Carrier screening for Beta-thalassaemia: a review of international practice

“…In the United States of America, pregnant women were also found to have a lack of awareness of genetic testing, and if they had undergone carrier testing, they often could not recall undergoing the test. 39 Ormond and colleagues found that many pregnant women feel overwhelmed about the numerous tests offered to them, and they do not have a clear understanding about what any of the tests are designed to detect. 39 It should be noted that antenatal screening for thalassaemia often occurs in the context of the first antenatal visit, at which time a considerable amount of information about testing and care during pregnancy is provided 40 and recall may be poor if the information is not judged to be of particular relevance.…”

“…39 Ormond and colleagues found that many pregnant women feel overwhelmed about the numerous tests offered to them, and they do not have a clear understanding about what any of the tests are designed to detect. 39 It should be noted that antenatal screening for thalassaemia often occurs in the context of the first antenatal visit, at which time a considerable amount of information about testing and care during pregnancy is provided 40 and recall may be poor if the information is not judged to be of particular relevance. 41 Informed consent for thalassaemia carrier screening A number of different guidelines have recommended that informed consent should be a requirement for all genetic screening programmes.…”

“…45 As new genetic screening tests become available, the time and money required to offer pre-test information and obtain informed consent must be considered, 29 as even though informed consent is highly recommended, realistically it may not always be practical to obtain informed consent from each individual for every genetic test offered. 35,39,44 Despite the recent implementation of a universal haemoglobinopathy screening programme in the United Kingdom, thalassaemia screening programmes in countries such as the United Kingdom and Australia often involve indirect genetic testing, as the test is usually presented as a routine FBE in pregnant women and little or no information about the screening test for thalassaemia carrier status is presented to the women. 32 Ahmed and colleagues found that most women who knew that they had been carrier screened for thalassaemia believed that the test was a routine test and they did not have a choice with regard to the test being conducted.…”

Can a decision aid enable informed decisions in neonatal nursery recruitment for a fragile X newborn screening study?

“…6,[14][15][16] These realities dictate that parents play a meaningful role in deciding whether or not their child should participate in such a study. [17][18][19][20] The study was designed to determine parents' interest in screening, their reasons for accepting or declining, family adaptation to learning about carrier status, and the early developmental progress of identified infants. Parents were recruited in the hospital shortly after their child's birth; those interested in hearing about the study were given a brochure and consent form by a bilingual research assistant (RA).…”