Genetic counseling as an occupational specialty: A sociological perspective

Abstract

Observations of client‐counselor interaction during genetic counseling sessions at a metropolitan hospital on the West Coast identified five major problems with which genetic counselors had to deal. Their clients needed: (1) a diagnosis of the disease condition; (2) an evaluation of the genetic nature of the condition; (3) to be taught biomedical information; (4) assistance in coping with psychological stress; and (5) information on available community resources and social service support. The genetic counselors under observation tended to satisfy the clients’ first two needs, the need for a diagnosis and for a genetic evaluation, but they tended not to satisfy the clients’ needs in the areas of education and psychosocial counseling. Genetic counseling appears to demand a synthesis of five different professional skills, those of the medical doctor, the geneticist, the educator, the psychotherapist, and the social worker. These findings are discussed in terms of their relevance for creating programs for training genetic counselors.     

Genetic screening and genetic counseling: Knowledge,attitudes, and practices in two groups of family planning professionals

Abstract

Genetic counseling has evolved from a eugenic orientation to an orientation concerned with the physical and mental well‐being of counselees. This change in genetic counseling, which has received formal recognition in a new definition of genetic counseling, requires collateral development of the processes and evaluation of the outcomes of counseling. This paper offers a theory of genetic counseling which interrelates genetic information, psychological responses, learning theory, and decision‐making. The theory presented for genetic counseling is based on the more general theories of learning, decision‐making, and adaptation to psychological stress. This theory is extended into a practical model that provides a comprehensive explanation of the relationships between the activities of genetic counseling and informed decision‐making, which is assumed to be a major element of healthy counselee adjustment. Implications of this theory for the genetic counselor, the counselee, and the assessment of clinical and program success are discussed.     

Implementing routine HIV testing: the role of state law

In September 2006, the Centers for Disease Control and Prevention (CDC) recommended routine HIV testing for all Americans aged 13-64, which would eliminate requirements for written consent and pretest counseling as previously required. However, this approach may conflict with state requirements concerning pretest counseling and informed consent for HIV testing. Our survey of state HIV testing laws demonstrates that the majority of states have HIV testing requirements that are inconsistent with the CDC's recommendations. Moreover, states that have recently amended their laws have not eased the requirements for pretest counseling and informed consent. The reasons for the persistence of these legal requirements must be understood to effect policy changes to increase HIV testing.     

Sickle cell trait counseling-evaluation of counselors and counselees.

In this study, information about both counselee and counselor performance was obtained from taped recordings of 193 structured counseling sessions with persons diagnosed as having sickle cell trait. The data provide evidence that: (1) lay persons can understand essential sickle cell information; (2) trained lay persons using a structured format can transmit successfully sickle cell information; (3) only education and age, among counselee characteristics studies, were related to successful learning; (4) the evaluation of information transfer in counseling programs cannot be limited to counselees' comprehension but must also consider other variables such as counselor performance and curriculum content; (5) a reduction in negative feelings associated with a diagnosis of sickle cell trait is an immediate effect of counseling; and (6) audio-taping of counseling sessions is client acceptable and useful for evaluation, quality control, and counselor training.     

Progress of a Comprehensive Familial Cancer Genetic Counseling Program in the Era of BRCA1 and BRCA2

BRCA1 and BRCA2 mutation carriers have an increased risk of developing breast and/or ovarian cancer. Technical advances in genetic testing have increased the need for genetic counseling services; therefore, we have developed a counseling program for these individuals. The purpose of this study is to characterize this population, assess level of interest in genetic testing, and evaluate our program over a 5-year period. Our Familial Cancer Genetic Counseling Program was established in November, 1994. Information was collected prospectively, with comprehensive evaluation including complete pedigree, risk assessment, and counseling by a genetic counselor, geneticist, and oncologist. Data were collected on risk level, and subsequent recommendations for screening and/or genetic testing. There were 824 contacts recorded from November, 1994, through August, 1999. To date, 162 families have undergone comprehensive genetic evaluation and counseling. 90 (56%) were seen for a concerning family history and 72 (44%) were seen due to a personal history of malignancy. The majority of families had a significant level of risk with 126 (78%) families having two and 70 (43%) families having three affected first-degree relatives. Of the 162 families who received full counseling, 125 (77%) met criteria to recommend BRCA1/BRCA2 genetic testing. At this time, 30 of the 162 (18%) have had genetic testing. A brief phone contact or clinic visit is useful to screen individuals so that counseling can be directed toward truly high-risk families. In our program, the majority of families counseled were eligible for BRCA1/BRCA2 testing, but only 18% have elected to proceed at this time.     

Information needs of mothers regarding communicating BRCA1/2 cancer genetic test results to their children

Mothers who participate in genetic testing for hereditary breast/ovarian cancer risk must decide if, when, and how to ultimately share their BRCA1 and BRCA2 (BRCA1/2) test results with their minor-age children. One of the primary aides for mothers in making this decision is cancer genetic counseling. However, counseling is limited in how well it can educate mothers about such decisions without the availability of resources that are specific to family communication and genetic testing per se. In an effort to fill this gap and identify mothers most likely to benefit from such resources, surveys were conducted with 187 mothers undergoing BRCA1/2 testing who had children 8-21 years old. Data were collected weeks after genetic testing but prior to mothers' learning of their test results; quantitative assessments of informational resource needs (i.e., speaking with previous BRCA1/2 testing participants who are parents regarding their experiences, reading educational literature about options and what to expect, speaking with a family counselor, attending a family support group, and self-nominated other resources), testing motivations, decision making vigilance, and decisional conflict regarding communicating test results to children were included. Mothers' most-to-least frequently cited information resource needs were: literature (93.4%), family counseling (85.8%), prior participants (79.0%), support groups (53.9%), and other (28.9%; e.g., pediatricians and psychologists). Seventy-eight percent of mothers were interested in accessing three or more resources. In multivariate regression analyses, testing motivations (beta = 0.35, p = 0.03), decision-making vigilance (beta = 0.16, p = 0.00), and decisional conflict (beta = 0.10, p = 0.00) were associated with mothers' need level; mothers with a greater interest in testing to learn about their children's risks, those with more vigilant decision-making styles, and those with higher decisional conflict had the greatest need. In conjunction with enhanced genetic counseling focusing on family disclosure, educational literature, and psychosocial support may promote improved outcomes.     

Efficacy of and patient preference for three counseling formats

Three methods of conveying genetics-related information to parents with children who have isolated cleft lip and palate (CL/P) were evaluated for efficacy and patient preference. The methods were slide-tape, group counseling, and individual (or parental couple) counseling formats. Sixty-one subjects were assigned at random to one of the three formats and then quizzed about their pre- and postcounseling knowledge and attitudes on CL/P. Long-term retention of information was measured by administering a third quiz 6 months after the initial counseling session. Comparisons of the mean scores for the three formats within each questionnaire revealed no significant differences among them. Based on this study, the following conclusions were drawn: Genetic counseling significantly improves one's knowledge base about CL/P; no counseling method is detectably better or worse than the others in conveying genetic information to counselees; group or audiovisual counseling is accepted by counselees as well as or better than individual counseling; the audiovisual format presents the same information as a counselor in half the time; and genetic counseling for CL/P is an underprovided service by San Antonio's CL/P treatment teams.     

Prenatal screening for hemoglobinopathies. II. Evaluation of counseling.

Learning during genetic counseling is often below expectations, especially in the context of genetic screening. In this report we describe learning as a result of genetic counseling of 298 pregnant women identified as hemoglobinopathy carriers, 234 with sickle cell trait and 64 with beta-thalassemia trait. Counseling was designed to provide the information needed in a simple, clear, and nondirective manner. A special videotape produced for this purpose provided dramatization and a role model illustrating an appropriate response. After viewing the videotape the counselee had an opportunity to question the counselor and to have any misconceptions corrected. Questionnaires revealed significantly increased knowledge as a result of counseling in each of the three hemoglobinopathy subject areas tested-namely, clinical manifestations, genetics, and prenatal diagnosis. Five factors correlated with higher knowledge scores after counseling-namely, a younger patient age, more years of education, knowledge of having trait before this identification, knowledge of the baby's father having trait before counseling, and having no prior children.     

Genetic testing and genetic counseling among medicaid-enrolled children with autism spectrum disorder in 2001 and 2007

The rise in the prevalence of autism spectrum disorder (ASD) has resulted in increased efforts to understand the causes of this complex set of disorders that emerge early in childhood. Although research in this area is underway and yielding useful, but complex information about ASD, guidelines for the use of genetic testing and counseling among children with ASD conflict. The purpose of this study was to determine the frequency of use of genetic testing and counseling before the widespread implementation of clinical chromosomal microarray (CMA) to establish a baseline for the use of both services and to investigate potential disparities in the use of both services among children with ASD. We found that about two-thirds of children with ASD received genetic testing or counseling and the use of both services is increasing with time, even in the pre-CMA era. Being female and having a comorbid intellectual disability diagnosis both increased the likelihood of receiving genetic testing and genetic counseling. Initial discrepancies in the use of both services based on race/ethnicity suggest that troubling disparities observed in other services delivered to children with ASD and other mental health disorders persist in genetic testing and counseling as well. These results should incentivize further investigation of the impact of genetic testing and counseling on children with ASD and their families, and should drive efforts to explore and confront disparities in the delivery of these services, particularly with the advancing scientific research on this topic.     

Low nonpaternity rate in an old Afrikaner family

Extrapair paternity is a crucial parameter for evolutionary explanations of reproductive behavior. Early studies and human testis size suggest that human males secure/suffer frequent extrapair paternity. If these high rates are indeed true, it brings into question studies that use genealogies to infer human life history and the history of diseases since the recorded genealogies do not reflect paths of genetic inheritance. We measure the rate of nonpaternity in an old Afrikaner family in South Africa by comparing Y-chromosome short tandem repeats to the genealogy of males. In this population, the nonpaternity rate was 0.73%. This low rate is observed in other studies that matched genealogies to genetic markers and more recent studies that also find estimates below 1%. It may be that imposed religious morals have led to reduced extrapair activities in some historic populations. We also found that the mutation rate is high for this family, but is unrelated to age at conception.     

Cleaner fish use tactile dancing behavior as a preconflict management strategy

The most commonly asked question about cooperative interactions is how they are maintained when cheating is theoretically more profitable. In cleaning interactions, where cleaners remove parasites from apparently cooperating clients, the classical question asked is why cleaner fish can clean piscivorous client fish without being eaten, a problem Trivers used to explain reciprocal altruism. Trivers suggested that predators refrain from eating cleaners only when the repeated removal of parasites by a particular cleaner results in a greater benefit than eating the cleaner. Although several theoretical models have examined cheating behavior in clients, no empirical tests have been done (but see Darcy ). It has been observed that cleaners are susceptible to predation. Thus, cleaners should have evolved strategies to avoid conflict or being eaten. In primates, conflicts are often resolved with conflict or preconflict management behavior. Here, I show that cleaner fish tactically stimulate clients while swimming in an oscillating "dancing" manner (tactile dancing) more when exposed to hungry piscivorous clients than satiated ones, regardless of the client's parasite load. Tactile dancing thus may function as a preconflict management strategy that enables cleaner fish to avoid conflict with potentially "dangerous" clients.     

Genetic counseling in the epilepsies

Summary Rules are proposed for genetic counseling in the epilepsics. In a first section, some attempts at subdividing epilepsies by dichotomous classifications are discussed critically. Then, the typical EEG patterns found in epileptic diseases as well as their genetic bases are described. The third section comprises various clearly defined and sufficiently well-described epileptic syndromes. In a fourth section, a kind of record sheet is suggested to help the genetic counselor in planning his procedure. Throughout this review, we have stressed that genetic counseling in the epilepsies should not be confined to risk assessment but should include considerations on course of the disease, prognosis, and chances of therapy.     

Genetic screening and genetic counseling: knowledge, attitudes, and practices in two groups of family planning professionals.

67 obstetrical and gynecological physicians and 102 professional staff members of family planning clinics (FPCs) in the Pittsburgh, Pennsylvania, area returned questionnaires relating to knowledge of basic genetic principles and attitudes towards genetic screening and genetic counseling. The best understood genetic risk was Down's syndrome in children born to mothers over 40 years of age. Nearly 90% of physicians and 85% of FPC staff knew this but only 12% of physicians and 30% of FPC staff knew it is caused by chromosomal aberration. Next best understood defect is sickle cell anemia. In overall knowledge the physicians had a mean score of 4.45 of 7 genetic questions, FPC staff, 3.32. However, FPC workers who had received in-service genetic training scored 4.42 (p less than .001). Knowledge of the 2 genetic clinics in the area and acceptance of the principles of genetic screening were associated with the individual's acceptance of sterilization as a method of birth control and acceptance of abortion if the fetus had significant risk of being born deformed. Both of these associations were at the significant level for both physicians and FPC workers. Both physicians and FPC workers who have themselves had genetic counseling or who have family members who have had such counseling show higher acceptance levels. An association was also found between acceptance and genetic educational background. About 92% of respondents who had read articles or textbooks pertaining to genetics during the preceding year approved of including genetic information as part of maternal and child health projects compared with 82% of those who had not (p less than .02). Among the physicians 36% felt it should be required, 34% voluntary, and 30% did not know; for FPC workers, 59, 27, and 14%, respectively. Protestants and Jews tended to favor required premarital screening while Catholics tended to oppose it (p less than .007). It is disconcerting that over 50% of the physicians did not know the recurrence risk of PKU and over 20% did not know the gene is the basic unit of inheritance. While it is true that over 1/2 completed basic professional education more than 20 years ago when genetics was not part of the medical school curriculums this basic knowledge needs to have been acquired during continuing medical education. In this study more than 1/3 of the FPC staff indicated they had been asked to provide genetic counseling or had referred clients. This points up the importance of such workers in a comprehensive genetic counseling service.     

Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 testing: rationale and development of a randomized controlled trial

Genetic counseling and testing, particularly for adult onset conditions, has become increasingly available over the last decade, and it is expected that this trend will continue as additional genes are identified and as such testing diffuses into mainstream clinical care. To meet the increased demand for services, it will become necessary to explore alternative avenues to traditional face-to-face genetic counseling. One such modality is the use of telephone genetic counseling (TGC), which is easy to implement and still allows for comprehensive service delivery. Although TGC has been used with increased frequency, there is a paucity of data about its effectiveness and impact on important patient outcomes. This paper provides an overview of the evolution of telephone counseling in nongenetics and genetics settings. The rationale and aims of the largest randomized clinical trial to be performed with this mode of counseling in the context of cancer susceptibility testing for mutations in the BRCA1 and BRCA2 genes are also explained. In addition, procedural aspects of the genetic counseling intervention and the novel tools developed to facilitate this process and to ensure adequate counselor training and quality assurance are described.     

Anonymity and informed consent in artificial procreation: a report from Denmark

The practice of informed consent in biomedicine is so widely spread that it must be considered the most important principle within bioethics, and the most universally appealed to within recent legislation. There seems to be a consensus as to its value in research on autonomous persons, but also a problem concerning its application when dealing with people having a serious mental, social or even physical disability.
Within the field of artificial procreation there are even more problems. Informed written consent is often demanded from anonymous donors of gametes in order to ensure their consent to the legal and moral consequences of their anonymity. The child resulting from the artificial procreation, on the contrary, cannot consent to, nor be informed before being conceived, of the secrecy laid on the identity of its genetic parents. Some countries resolve this problem by allowing the children, when they reach their majority, to obtain some information pertaining to the health or the identity of their genetic parents.
This presents ethical problems. It can be argued that the anonymity of the parents chiefly affects the children, so that an agreement on this point among parents, doctors and others must be regarded as invalid. The paper will argue that a law ensuring the complete anonymity of the parents is disregarding the informed consent and the interests of the children resulting from artificial procreation, and is thus doing more damage to society than good.     

Anonymity and Informed Consent in Artificial Procreation

The practice of informed consent in biomedicine is so widely spread that it must be considered the most important principle within bioethics, and the most universally appealed to within recent legislation. There seems to be a consensus as to its value in research on autonomous persons, but also a problem concerning its application when dealing with people having a serious mental, social or even physical disability.
Within the field of artificial procreation there are even more problems. Informed written consent is often demanded from anonymous donors of gametes in order to ensure their consent to the legal and moral consequences of their anonymity. The child resulting from the artificial procreation, on the contrary, cannot consent to, nor be informed before being conceived, of the secrecy laid on the identity of its genetic parents. Some countries resolve this problem by allowing the children, when they reach their majority, to obtain some information pertaining to the health or the identity of their genetic parents.
This presents ethical problems. It can be argued that the anonymity of the parents chiefly affects the children, so that an agreement on this point among parents, doctors and others must be regarded as invalid. The paper will argue that a law ensuring the complete anonymity of the parents is disregarding the informed consent and the interests of the children resulting from artificial procreation, and is thus doing more damage to society than good.     

Informed Consent and Genetic Information

In the last 25 years writing in bioethics, particularly in medical ethics, has generally claimed that action is ethically acceptable only if it receives informed consent from those affected. However, informed consent provides only limited justification, and may provide even less as new information technologies are used to store and handle personal data, including personal genetic data. The central philosophical weakness of relying on informed consent procedures for ethical justification is that consent is a propositional attitude, so referentially opaque: consent is given to specific propositions describing limited aspects of a situation, and does not transfer even to closely related propositions. Assembling genetic data in databases creates additional difficulties for ethical justification. This is not because genetic information is intrinsically exceptional, but because the merger of genetic and information technologies make it possible to assemble massive quantities of complex information that defeat individuals' best efforts to grasp what is at stake, or to give or withhold informed consent. The future agenda for bioethics will need to take account of both these limitations of appeals to informed consent.