Preconceptional Genetic Carrier Testing: Direct-to-Consumers
Preconceptional Genetic Carrier Testing: Direct-to-Consumers
Recently, a number of commercial companies are offering preconceptional carrier tests directly-to-consumers. This offer raises a number of concerns and issues above and beyond those encountered with preconceptional tests offered within the traditional health care setting. In order to bring some of these issues to light and to initiate dialogue on this topic, this article discusses the following issues: the current offer of preconceptional carrier tests (until the end of 2010) through online commercial companies; the implications for the informed consent procedure and the need for good information; the need for medical supervision and follow-up; and the appropriate use of existing resources. The article concludes with some reflections about the potential sustainability of the offer of preconceptional carrier tests directly-to-consumers.
Identifying carriers of autosomal recessive or X-linked disorders before pregnancy has the potential to benefit prospective parents. Couples can become aware of the possible genetic risks to future offspring and of the reproductive options available. These options include not only prenatal diagnosis followed (or not) by termination of the pregnancy in case of an affected fetus or by coming to terms with the risk, but also the choices of using preimplantation genetic diagnosis, using donor sperm or oocytes, seeking adoption or refraining from having children. In some culturally related marriage practices, it could also result in choosing a different partner.
There are two approaches to the identification of carriers: carrier screening and carrier testing. Carrier screening is defined as the detection of carrier status in persons who do not have an a priori increased risk for having a child with a certain disease, whereas with carrier testing, the persons do have a higher a priori risk based on their or their partners' personal or family history (Castellani et al., 2010). Carrier screening can be offered on an individual basis, but also as an organized screening programme, either during or before pregnancy. While most screening programmes in health care aim to prevent, treat and alleviate disease, above and beyond these aims, the particular goal of preconceptional carrier screening is to strengthen reproductive autonomy and informed decision-making. If offered preconceptionally, this can mean less time constraints, less pressure and less emotional stress than when a test is performed during pregnancy (Bombard et al., 2010)
Internationally, the potential of preconceptional carrier screening has been studied extensively for cystic fibrosis (CF) (Bekker et al., 1993; Tambor et al., 1994; Axworthy et al., 1996; Honnor et al., 2000; Henneman et al., 2001; Lakeman et al., 2009) and haemoglobinopathies (HbPs) (Modell et al., 1998; Keskin et al., 2000; Lakeman et al., 2009). These studies have repeatedly revealed positive attitudes towards CF carrier screening from health care providers (Poppelaars et al., 2004a; McClaren et al., 2008), patients and their relatives (Poppelaars et al., 2003) and from the general public (Poppelaars et al., 2004c). Furthermore, preconceptional carrier screening for CF for couples with no family history of CF was recommended a decade ago by the National Institutes of Health (NIH) (National Institutes of Health, 1999), the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynaecologists (ACOG) (Grody et al., 2001). Despite this, screening is not currently offered in most countries. Carrier testing for disorders such as CF is still usually restricted to families and partners of CF patients and carriers.
Apart from some specific regions (e.g. Thalassemia carrier screening in Cyprus and Sardinia) and specific communities (e.g. carrier screening for Ashkenazi Jews), traditional healthcare systems have hesitated to implement carrier screening programmes for the entire population of couples planning a pregnancy. Various concerns underlie this stance, including the psychological impact (Axworthy et al., 1996) and risk of stigmatization/discrimination of being a carrier (McQueen, 2002), impairment of the freedom of choice because of the undue pressure on individual choice (Godard et al., 2003), medicalization (Poppelaars et al., 2004c), the fact that couples are difficult to reach before conception (Lakeman et al., 2009), and provider-related barriers such as a lack of familiarity with genetics and selection criteria for offering screening (Morgan et al., 2004).
Recently, commercial companies have been offering preconceptional carrier tests directly-to-consumers. These direct-to-consumer (DTC) tests provide information about monogenic diseases and the risk of having affected offspring. DTC genetic testing is often defined as the offer and/or marketing of genetic tests directly to the public without the intermediary of a health care professional from the traditional health care system. As has been suggested by the Human Genetics Commission, however, we also include in this discussion 'tests that are commissioned by the consumer' from a commercial company outside the traditional health care system 'but where a medical practitioner or a health professional is involved in the provision of the service' (Human Genetics Commission, 2010). The availability of DTC genetic testing services in general has created a huge debate about the desirability of these activities (Howard and Borry, 2008; Hunter et al., 2008; Kaye, 2008). However, until now, these discussions have mainly focused on the commercial DTC offer of genome-wide-testing; a service which offers individual risk assessments for common disorders (Janssens et al., 2008; Melzer et al., 2008) with limited or no medical or health benefits to the individual user. Various concerns were raised with regard to this DTC offer of genetic tests, including, among others, concerns related to the validity and utility of tests offered, the absence of individualized medical supervision, the lack of an adequate consent procedure, the absence and/or quality of pre- and post-test genetic counselling, the inappropriate testing of minors, the respect for privacy and the potential burden on public health resources.
Because of the great heterogeneity in types of DTC genetic tests, and the fact that the consequences of their results vary widely, a one-size-fits-all approach is not appropriate for all DTC genetic tests. Since preconception carrier screening has been accepted by various medical associations, DTC testing for these tests may be regarded differently when compared with the DTC tests for common disorders that have been criticized because of, for example, the lack of clinical utility (i.e. how likely the test is to significantly improve patient outcomes) and analytical validity (i.e. how accurately and reliably the test measures the genotype of interest). Therefore, the aim of this article is to discuss various ethical issues raised by the DTC offer of preconceptional carrier tests for autosomal recessive disorders from commercial companies that are not embedded in regular health care.
In the following order, this article will present and discuss: (i) the current offer of preconceptional carrier tests through online providers; (ii) the implications for the informed consent procedure and the possible consequences for the provision of information; (iii) the need for medical supervision and follow-up and (iv) the current offer in relation to the appropriate use of existing resources.
Abstract and Introduction
Abstract
Recently, a number of commercial companies are offering preconceptional carrier tests directly-to-consumers. This offer raises a number of concerns and issues above and beyond those encountered with preconceptional tests offered within the traditional health care setting. In order to bring some of these issues to light and to initiate dialogue on this topic, this article discusses the following issues: the current offer of preconceptional carrier tests (until the end of 2010) through online commercial companies; the implications for the informed consent procedure and the need for good information; the need for medical supervision and follow-up; and the appropriate use of existing resources. The article concludes with some reflections about the potential sustainability of the offer of preconceptional carrier tests directly-to-consumers.
Introduction
Identifying carriers of autosomal recessive or X-linked disorders before pregnancy has the potential to benefit prospective parents. Couples can become aware of the possible genetic risks to future offspring and of the reproductive options available. These options include not only prenatal diagnosis followed (or not) by termination of the pregnancy in case of an affected fetus or by coming to terms with the risk, but also the choices of using preimplantation genetic diagnosis, using donor sperm or oocytes, seeking adoption or refraining from having children. In some culturally related marriage practices, it could also result in choosing a different partner.
There are two approaches to the identification of carriers: carrier screening and carrier testing. Carrier screening is defined as the detection of carrier status in persons who do not have an a priori increased risk for having a child with a certain disease, whereas with carrier testing, the persons do have a higher a priori risk based on their or their partners' personal or family history (Castellani et al., 2010). Carrier screening can be offered on an individual basis, but also as an organized screening programme, either during or before pregnancy. While most screening programmes in health care aim to prevent, treat and alleviate disease, above and beyond these aims, the particular goal of preconceptional carrier screening is to strengthen reproductive autonomy and informed decision-making. If offered preconceptionally, this can mean less time constraints, less pressure and less emotional stress than when a test is performed during pregnancy (Bombard et al., 2010)
Internationally, the potential of preconceptional carrier screening has been studied extensively for cystic fibrosis (CF) (Bekker et al., 1993; Tambor et al., 1994; Axworthy et al., 1996; Honnor et al., 2000; Henneman et al., 2001; Lakeman et al., 2009) and haemoglobinopathies (HbPs) (Modell et al., 1998; Keskin et al., 2000; Lakeman et al., 2009). These studies have repeatedly revealed positive attitudes towards CF carrier screening from health care providers (Poppelaars et al., 2004a; McClaren et al., 2008), patients and their relatives (Poppelaars et al., 2003) and from the general public (Poppelaars et al., 2004c). Furthermore, preconceptional carrier screening for CF for couples with no family history of CF was recommended a decade ago by the National Institutes of Health (NIH) (National Institutes of Health, 1999), the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynaecologists (ACOG) (Grody et al., 2001). Despite this, screening is not currently offered in most countries. Carrier testing for disorders such as CF is still usually restricted to families and partners of CF patients and carriers.
Apart from some specific regions (e.g. Thalassemia carrier screening in Cyprus and Sardinia) and specific communities (e.g. carrier screening for Ashkenazi Jews), traditional healthcare systems have hesitated to implement carrier screening programmes for the entire population of couples planning a pregnancy. Various concerns underlie this stance, including the psychological impact (Axworthy et al., 1996) and risk of stigmatization/discrimination of being a carrier (McQueen, 2002), impairment of the freedom of choice because of the undue pressure on individual choice (Godard et al., 2003), medicalization (Poppelaars et al., 2004c), the fact that couples are difficult to reach before conception (Lakeman et al., 2009), and provider-related barriers such as a lack of familiarity with genetics and selection criteria for offering screening (Morgan et al., 2004).
Recently, commercial companies have been offering preconceptional carrier tests directly-to-consumers. These direct-to-consumer (DTC) tests provide information about monogenic diseases and the risk of having affected offspring. DTC genetic testing is often defined as the offer and/or marketing of genetic tests directly to the public without the intermediary of a health care professional from the traditional health care system. As has been suggested by the Human Genetics Commission, however, we also include in this discussion 'tests that are commissioned by the consumer' from a commercial company outside the traditional health care system 'but where a medical practitioner or a health professional is involved in the provision of the service' (Human Genetics Commission, 2010). The availability of DTC genetic testing services in general has created a huge debate about the desirability of these activities (Howard and Borry, 2008; Hunter et al., 2008; Kaye, 2008). However, until now, these discussions have mainly focused on the commercial DTC offer of genome-wide-testing; a service which offers individual risk assessments for common disorders (Janssens et al., 2008; Melzer et al., 2008) with limited or no medical or health benefits to the individual user. Various concerns were raised with regard to this DTC offer of genetic tests, including, among others, concerns related to the validity and utility of tests offered, the absence of individualized medical supervision, the lack of an adequate consent procedure, the absence and/or quality of pre- and post-test genetic counselling, the inappropriate testing of minors, the respect for privacy and the potential burden on public health resources.
Because of the great heterogeneity in types of DTC genetic tests, and the fact that the consequences of their results vary widely, a one-size-fits-all approach is not appropriate for all DTC genetic tests. Since preconception carrier screening has been accepted by various medical associations, DTC testing for these tests may be regarded differently when compared with the DTC tests for common disorders that have been criticized because of, for example, the lack of clinical utility (i.e. how likely the test is to significantly improve patient outcomes) and analytical validity (i.e. how accurately and reliably the test measures the genotype of interest). Therefore, the aim of this article is to discuss various ethical issues raised by the DTC offer of preconceptional carrier tests for autosomal recessive disorders from commercial companies that are not embedded in regular health care.
In the following order, this article will present and discuss: (i) the current offer of preconceptional carrier tests through online providers; (ii) the implications for the informed consent procedure and the possible consequences for the provision of information; (iii) the need for medical supervision and follow-up and (iv) the current offer in relation to the appropriate use of existing resources.
