Understanding Genetic Counseling
Approximately 5,000 genetic diseases have been identified. In addition, for every 1,000 births, five of those will result in infant mortality due to a genetic cause. As well, approximately 50 percent of children in Canadian hospitals are suffering from a genetic disorder (The Privacy Commissioner of Canada, 1995).
According to The Privacy Commissioner of Canada (1995), the four ways in which genetic disorders can occur are through a single mutant gene, through multiple genetic disorders combined with environmental factors, through abnormal chromosomes and through changes in cells. Each method is explained below.
- Single mutant gene: The single mutant gene method means that some diseases are caused by a disorder in one particular gene. Approximately three percent of the population will develop a disease caused by a particular gene. An example of such a disease would be cystic fibrosis (The Privacy Commissioner of Canada, 1995).
- Multiple genetic disorders combined with environmental factors: This is a combination of the effects of multiple genes and a person’s lifestyle. Such diseases include heart disease, asthma, obesity, and schizophrenia. Approximately one in every ten people is affected by this type of disorder (The Privacy Commissioner of Canada, 1995).
- Abnormal chromosomes: This results from an abnormality in the structure and number of chromosomes a person has. For example, Turner’s syndrome can be detected if a female has a missing X chromosome and Down’s syndrome can be detected if a person has an extra chromosome. Approximately one in 200 people have a chromosomal defect (The Privacy Commissioner of Canada, 1995).
- Changes in cells: This means that a person may develop a disease over time due to a change in the DNA in their cells change, even though they were born with no genetic abnormalities. This change could occur due to a virus, an example of this is AIDS (The Privacy Commissioner of Canada, 1995).
Neal, A. (2009). Breast Cancer Genes Raise Prostate Risks. Retrieved from http://www.hivplusmag.com/NewsStory.asp?ID=19886&sd=02/05/2009
Genetic testing is used to identify a specific gene that may carry a genetic disease or to identify a possible abnormality in a gene by analyzing DNA (Genetic Testing, 2007; Burke, 2005). It occurs either by taking a blood sample from an individual, or by taking a sample of amniotic fluid from an unborn fetus (Genetic Testing, 2002).
The most common type of genetic testing is associated with reproduction (The Privacy Commissioner of Canada, 1995). According to The Joseph and Rose Kennedy Institute of Ethics (2010) and The Privacy Commissioner of Canada (1995), these types of genetic testing are pre-conception screening, prenatal screening and neonatal screening. Each type is explained below.
- Pre-conception Screening: Pre-conception screening involves testing an individual’s DNA in order to detect possible abnormal chromosomes, which may indicate that the individual carries a genetic disorder. This is important if the individual is concerned with passing this gene onto their offspring. Such diseases that can be detected are cystic fibrosis, Duchenne muscular dystrophy and Huntington's disease (The Joseph and Rose Kennedy Institute of Ethics, 2010).
- Prenatal Screening: Prenatal screening is used to determine if a fetus is at risk for having a genetic disease, through a process known as amniocentesis, which involves gathering and testing the amniotic fluid (The Joseph and Rose Kennedy Institute of Ethics, 2010).
- Neonatal Screening: Neonatal screening involves drawing a blood sample from an infant to identify possible genetic disorders that, if detected early on, may slow or stop the progression of the disease. Such diseases may be phenylketonuria (PKU), sickle cell anemia, or Tay-Sachs disease (The Joseph and Rose Kennedy Institute of Ethics, 2010). In Canada, newborn babies are screened for phenylketonuria and hypothyroidism (The Privacy Commissioner of Canada, 1995).
Genetic testing has moved from being simply a research activity to being a community resource. It involves much more than a laboratory analysis. It involves a preparation stage, before the analysis is done, in which basic information is gathered about an individual and their family history of genetic diseases. After the laboratory analysis, comes the interpretation/support stage. This is where the individual learns what the results will mean for them (Harper, 1997). This is where genetic counseling comes in.
Genetic counseling is a process by which a trained professional, perhaps a physician or a social worker, helps an individual or family understand the details of hereditary diseases that they may face, including the probability that the disorder(s) will affect them. It also involves the genetic counselor helping them to make the best decision for the individual or family and helping them to deal with the impact of such disorders (Kessler, 1979).
A Social Worker’s Role in Genetic Counseling
A social worker working as a genetic counselor must first be educated in the many types of genetic diseases, including cancer, Huntington’s disease, and schizophrenia, to name a few. The social worker must be able to provide information such as the nature of the disease, the probability that it will occur in their offspring, and possible treatment (Mealer, Singh & Murray, 1981). The social worker must present them with options but it is important for the social worker to be unbiased and to ensure patient autonomy, as genetic counseling deals with probabilities (Davis, 2001). A social worker may provide on-going support for the clients, as having a child with a disease can severely impact all members of the family, not just the person who has the illness. A social worker in genetic counseling is also responsible for providing resources for the individual or family to obtain further help or information and to get access to services they may benefit from (Mealer et al., 1981).
Down Syndrome Symptoms. (2010). Retrieved from http://www.downsyndromesymptoms.org/causes-of-down-syndrome/
Social and Ethical Dilemmas Related to Genetic Counseling
After having grasped a more in depth understanding of the physical elements that the client will be going through over the course of their genetic counseling process, the social worker must also be aware of the on-going ethical dialogue they may encounter. In order to best serve the client, it is essential to delve into the sociocultural critiques of prenatal genetic counseling, and make the social worker aware of the ethical and legal constraints on their practice. This segment aims to equip the social worker practicing in a genetic counseling context with the means to properly inform themselves and their clients of these vital topics:
- Legal and medical ethics for practice
- Cultural factors affecting access and use of genetic counseling
- Ethical implications of selecting for and against disability
Legal and medical ethics for practice
Clinical guidelines are essential for health care providers as they insure a standard level of care for clients receiving prenatal testing services. As a social worker, although you may not be directly involved with clinical practice, you are still legally obligated to be aware of these guidelines as a member of a client’s “circle of care”. Physicians are required to discuss prenatal genetic counseling with all patients who have the appropriate indications (Sharpe & Carter, 2006, pg. 197). These indications include ethnicity, family history, pregnancy history, maternal age and other medical factors (Sharpe & Carter, 2006, pg.193) Furthermore, patients also have the right to request information and counseling even if there is no indication of risk. Canadian medical guidelines also recognize the obligation for the caregiver to refer the client to an alternative provider when they feel that they are inhibited from having a full and forthright conversation regarding the physical and psychosocial implications of counseling (Sharpe & Carter, 2006). Thus, if a social worker’s personal beliefs and values affect their ability to provide unbiased care, they are ethically obligated to refer the client to another caregiver.
Despite these guidelines for providing care, some argue that they are not finite enough. It is often up to the discretion of a clinician to decide whether a patient is an appropriate candidate for genetic counseling (Sharpe & Carter, 2006). The International Bioethics Committee, as cited in Sharpe & Carter (2006, pg. 203), claim that discerning whether a test is reasonable or unreasonable for the client on an individual case basis is impossible to regulate. This unstandardized process is said to lead to an inconsistency in access and quality of care.
Cultural factors affecting access and use of genetic counseling
The varying prevalence of prenatal genetic counseling in certain groups indicates a sociocultural difference in how genetic counseling is perceived and made available. Studies of clinic samples have shown Caucasian individuals of higher socioeconomic statuses seeking out testing at a much higher occurrence than any other group. Conversely, African-American women are less likely to have heard or read about genetic testing for inherited disease (Sharpe & Carter, 2006, pg. 73). This higher prevalence in the dominant strain of society is concerning as prenatal testing becomes more commercialized and available. If the majority of women seeking training are from an affluent social location, genetic perfection may be at risk of becoming synonymous with the higher tiers of social hierarchy and thus, perpetuating that dominance (Andrews, 2001). As a social worker in a prenatal genetic counseling environment it is vital to be mindful of the specific beliefs and attitudes concerning genetic testing that are expressed in differing cultures.
Ethical implications of selecting for and against disability
The growing availability of prenatal genetic counseling technologies has brought forward increasing concern for the socially constructed notion of the “disabled body”, raising both moral and ethical dilemmas for counselors and those being counseled (Weil, 2000, pg. 262; Sharpe & Carter, 2006; Andrews, 2001). Andrews (2001) claims that the very existence of genetic counseling changes the very idea of “disabled”, in that the concept of normalcy – sufficient to make life worth living – is seen as being upgraded as testing is offered continually for less serious disorders (pg. 98). Furthermore the idea of what physical and mental qualities deemed necessary to lead a “life worth living” are subjective based on the personal values and experiences of the individual. Both Andrews (2001) and Sharpe & Carter (2006) mention a growing school of thought that asserts that the growing trend of aborting fetuses after positive diagnoses for genetic abnormalities is lending to the fear of a so-called “designer society” whereby difference is discriminated against before birth and disability is seen as an act of societal deviance. Despite genetic counseling appearing to give women more power, it actually asks women to, “ratify social prejudice through their reproductive choice,” (Andrews, 2001, pg. 100). He asserts that prenatal genetic testing creates an environment in which people believe that if they are offered genetic counseling, they have an obligation to act on it (Andrews, 2001).
However, the preconceived notions that physicians have concerning living with a particular genetic disorder may be inconsistent with the lived experiences of someone with that condition (Sharpe & Carter, 2006). A social worker may encounter further dilemma when counseling a couple that wishes to select for a disability rather than against it, and must be aware of the associated stigma surrounding this issue. A common occurrence of this is seen in deaf parents using genetic counseling processes to select for the genetic abnormality that would produce deaf offspring. It is argued that in many of these cases, the parents do not solely see the disability as a part of their physical identity, but rather an expression of their cultural lifestyle (Sharpe & Carter, 2006). However, opponents of this practice assert that selecting for disability is, “ not in the best interests of the child because it restricts the child’s future options and thereby threatens their autonomy,” (Sharpe & Carter, 2006, pg. 201). These differing views on disability selection may be a major source of professional and personal dilemma for the social worker as the International Bioethics Committee rejects the practice of prenatal genetic counseling for this purpose (Sharpe & Carter, 2006, pg. 202). There is also concern among disabled populations that the selection against genetic mutations will lead to a further marginalization of their minority group, and that funding to aid those with disabilities that can be selected against will be diminished as a result of the diminishing prevalence (Weil, 2000, pg. 267).
As a social worker in a prenatal genetic counseling context, it is vital to acquire a thorough understanding of the physical processes, sociocultural implications, and ethical concerns as a means for preparing to meet with a client. Genetic counseling is a rapidly changing field with continual technological advances that bring forth a confluence of moral and ethical issues, and it is essential for a social worker to remain aware of the current narrative in order to provide clients with the highest quality of care.
Salem News. (2010). Retrieved from http://www.salemnews.com/articles/october232010/downsabortions-cf.php