Chloe’s Law: A Powerful Legislative Movement Challenging a Core Ethical Norm of Genetic Testing

Since the early 1970s, the ethical norm governing counselors involved in testing and screening for genetic conditions related to reproduction has been strict neutrality. Counseling about reproductive genetics was to be patient centered but nondirective. Many advocates for people with Down syndrome believe that high abortion rates following a diagnosis of this condition show an unfounded bias against those with Down syndrome. These advocates have succeeded in enacting federal and state legislation that requires women who receive a prenatal diagnosis of Down syndrome to receive positive information about the condition, thereby ending the nominal goal of value-neutral counseling and setting the stage for further normative shifts in clinical reproductive genetics as counseling expands because of cell-free testing.

This Perspective is part of the “Where Next?” Series.

     

中国遗传咨询网——我国首个在线遗传咨询与遗传教育网站的开发

随着互联网的普及, 网络用户已习惯从网上获取相关资讯, 包括求医问药。由于我国的临床遗传学体系尚未完全建立, 许多遗传病患者或遗传咨询者无法得到较为专业的知识和咨询服务。为此, 建立了中国首个提供常见遗传病科普和网上遗传咨询服务的公益性网站—中国遗传咨询网(http://www.gcnet.org.cn)。该网站主要介绍遗传病的基本知识以及常见遗传病的一般情况、临床表现、诊断与防治方法、遗传方式与遗传咨询要点等。通过组织国内外50多名遗传咨询医师或医学遗传学专家, 就咨询者关心的问题, 进行一般性咨询答复, 或指导咨询者就诊。在线遗传咨询是网络时代的一种新型的方式。该网站的运行在一定程度上弥补了我国现有遗传咨询工作的不足, 有助于推动我国临床遗传学、遗传教育和人口与健康事业的发展。     

Mourning response and intervention in stillbirth: An alternative genetic counseling approach

Abstract

Stillbirth is a frequently occurring tragedy that causes intense problems for parents experiencing it. A review of the literature suggests that the grief response of parents to stillbirth or neonatal death may present more problems than do other types of bereavement. An assessment of these problems suggests that a successful plan for management requires intervention as soon as possible after the death occurs. A protocol for such intervention is presented. It is suggested that such intervention is the proper domain of genetic counselors and represents an expanded approach to genetic counseling, particularly in the light of the recent movement toward a more psychologically oriented paradigm of genetic counseling.     

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.     

Education and certification of genetic counselors.

Genetic counseling is defined by the American Society of Human Genetics as a communication process which deals with the human problems associated with the occurrence, or risk of occurrence, of a genetic disorder in a family. The first graduate program (Master's degree) in genetic counseling started in 1969 at Sarah Lawrence College, NY, USA, while in 1979 the National Society of Genetic Counseling (NSGC) was established. Today, there are 29 programs in U.S.A. offering a Master's degree in Genetic Counseling, five programs in Canada, one in Mexico, one in England and one in S. Africa. Most of these graduate programs offer two year training, consisting of graduate courses, seminars, research and practical training. Emphasis is given in human physiology, biochemistry, clinical genetics, cytogenetics, molecular and biochemical genetics, population genetics and statistics, prenatal diagnosis, teratology and genetic counseling in relation to psychosocial and ethical issues. Certification for eligible candidates is available through the American Board of Medical Genetics (ABMG). Requirements for certification include a master's degree in human genetics, training at sites accredited by the ABMG, documentation of genetic counseling experience, evidence of continuing education and successful completion of a comprehensive ABMG certification examination. As professionals, genetic counselors should maintain expertise, should insure mechanisms for professional advancement and should always maintain the ability to approach their patients.     

Effect of misreported family history on Mendelian mutation prediction models

People with familial history of disease often consult with genetic counselors about their chance of carrying mutations that increase disease risk. To aid them, genetic counselors use Mendelian models that predict whether the person carries deleterious mutations based on their reported family history. Such models rely on accurate reporting of each member's diagnosis and age of diagnosis, but this information may be inaccurate. Commonly encountered errors in family history can significantly distort predictions, and thus can alter the clinical management of people undergoing counseling, screening, or genetic testing. We derive general results about the distortion in the carrier probability estimate caused by misreported diagnoses in relatives. We show that the Bayes factor that channels all family history information has a convenient and intuitive interpretation. We focus on the ratio of the carrier odds given correct diagnosis versus given misreported diagnosis to measure the impact of errors. We derive the general form of this ratio and approximate it in realistic cases. Misreported age of diagnosis usually causes less distortion than misreported diagnosis. This is the first systematic quantitative assessment of the effect of misreported family history on mutation prediction. We apply the results to the BRCAPRO model, which predicts the risk of carrying a mutation in the breast and ovarian cancer genes BRCA1 and BRCA2.     

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.     

Factors influencing genetic counseling attendance rate: A geographically based study

Abstract

A study of factors influencing genetic counseling attendance rate has been conducted in the Bouches‐du‐Rhône area, in the south of France. In this area, a birth defects monitoring system (Eurocat n°22) annually covers 23,000 births. All the genetic services are delivered by only one genetic center located in Marseilles, and the data collected are computerized. The comparison of these two data bases gives an opportunity to estimate the rate of genetic counseling attendance after the occurrence of an affected stillbirth or live birth. Among the parents of 358 infants born in 1983–84 in this area with a pathology requiring genetic counseling, 226 (63 per cent) attended the Genetic Center within the first year after birth. The rate of attendance is statistically higher (p < 0.01) for the parents who had a stillbirth (78 per cent) than for those who had a live birth (57 per cent). It is also higher (p < 0.01) for the Marseilles maternities group (68 per cent) than for the group outside Marseilles (50 per cent). The referral delays are also analyzed according to malformation etiology and to viability of the child by the eighth day of lue. Besides evaluating a particular genetic center's effectiveness in diffusing information to the public concerned, this work shows that couples’ request is strongly dependent on a psychological need.     

Genetic counselor training: a review and considerations for the future.

The first training program for genetic counselors began in 1969. Since then a number of other programs have been developed and more than 650 individuals have graduated from these programs. This article reviews the development and current status of training opportunities for genetic counselors. Twelve programs that currently grant a master's-level degree in genetic counseling are reviewed. Other areas, such as certification and licensure, that reflect genetic counseling training or such issues of professional growth as continuing education and career advances are addressed.     

Working up autism: the practical role of medical genetics

The autism spectrum disorders (ASD) comprise a group of neurobehavioral phenotypes of heterogeneous etiology. In spite of a worldwide extensive research effort to unravel the genetic mystery of autism, medical geneticists are still facing an embarrassing lack of knowledge in dealing with the diagnosis, and consequently prognosis, of a child with autism. However, some lessons can be learned from accumulating experience in the clinical and molecular genetic evaluation of children with this condition. Patient evaluation, indications for molecular testing and counseling are the three aspects that will be discussed in this review.     

Informed consent and the misattributed paternity problem in genetic counseling

When misattributed paternity is discovered in the course of genetic testing, a genetic counselor is presented with a dilemma concerning whether to reveal this information to the clients. She is committed to treating the clients equally and enabling informed decision making, but disclosing the information may carry consequences for the woman that the counselor cannot judge in advance. A frequent suggestion aimed at avoiding this problem is to include the risk of discovering nonpaternity in the informed consent process for counseling. In this paper I argue that such a move does not resolve the problem, because the conflict hinges on the interpretation of equality on which the counselor operates. Given the principles of genetic counseling, neither construal of equality yields a satisfactory solution to the conflict. In fact, I conclude that including nonpaternity in informed consent is not endorsed by either view, and we are still left with the question of what to do should nonpaternity be discovered. I suggest a compromise position concerning disclosure, involving revealing relevant genetic information but withholding nonpaternity when possible.     

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.     

Involvement of rabbis in counseling and referral for genetic conditions: results of a survey.

Members of the New York Board of Rabbis were surveyed in the summer of 1991 to assess their activity in counseling congregants on issues related to genetics. Of a sample of 257 members, 181 (70.4%) responded to the questionnaire, and 175 of the responses were analyzed. More than half (56.0%) of the rabbis discussed health issues as a routine part of premarital counseling, and 22.3% had counseled a couple after prenatal diagnosis of an abnormal fetus. Orthodox rabbis were more likely than rabbis from other branches of Judaism to have contacted medical personnel in these cases, and they reported more involvement in helping families after the birth of a child with a hereditary condition or birth defect. However, a majority (90.9%) of rabbis from all branches would refer such a family for genetic counseling. Ninety-four rabbis (53.7%) discussed Tay-Sachs carrier testing with congregants. These rabbis tended to be Reform, to be younger, and to have fewer years in the rabbinate. Reform rabbis also scored significantly higher than did Orthodox or Conservative rabbis on knowledge questions about Jewish genetic diseases and were more active in distributing pertinent literature to congregants. Even though nearly 90% of the sample viewed counseling on genetic issues as part of their rabbinical role, most rabbis, even those who actually counseled on these issues, felt poorly prepared to do so. Recommendations are made for increased programming in rabbinical schools and for outreach from the genetics community.     

Attitudes of genetic counselors: a multinational survey.

Of 1,053 medical geneticists in 18 nations 677 (64%) returned questionnaires on their views on the importance of seven goals of genetic counseling, the appropriateness of five directive/nondirective approaches to counseling, and their choices of action in four situations involving directive/nondirective counseling. The majority (92%-94%) regarded nondirective approaches as appropriate; their views on both goals and approaches were similar to those reported in an earlier survey of 205 genetic counselors in the United States. In clinical situations involving presentation of reproductive options to carriers of disorders not diagnosable prenatally, 74%-85% would present contraception, sterilization, taking one's chances, artificial insemination donor (AID), or adoption as options even if not asked; 66% would present in vitro fertilization (IVF) with a donor egg; and 46% (67% in the United States) would present surrogate motherhood. In regard to three situations involving fetuses with low-burden disorders (Turner syndrome, XYY, and a possible small neural tube defect), 84%-88% would counsel nondirectively. Stepwise logistic regression analyses on professional and personal background variables showed that gender was related, cross-nationally, to self-reported directiveness in counseling, with men more likely than women to regard directive approaches as appropriate, more likely to give advice about fetuses with low-burden disorders, and more likely to present either IVF with donor egg or surrogate motherhood as options. Social and ethical implications of this widespread acceptance of nondirective counseling are discussed.     

Evaluation of a Well-Established Task-Shifting Initiative: The Lay Counselor Cadre in Botswana

Background

Evidence supports the implementation of task shifting to address health worker shortages that are common in resource-limited settings. However, there is need to learn from established programs to identify ways to achieve the strongest, most sustainable impact. This study examined the Botswana lay counselor cadre, a task shifting initiative, to explore effectiveness and contribution to the health workforce.

Methods

This evaluation used multiple methods, including a desk review, a national lay counselor survey (n = 385; response = 94%), in-depth interviews (n = 79), lay counselors focus group discussions (n = 7), lay counselors observations (n = 25), and client exit interviews (n = 47).

Results

Interview and focus group data indicate that lay counselors contribute to essentially all HIV-related programs in Botswana and they conduct the majority of HIV tests and related counseling at public health facilities throughout the country. Interviews showed that the lay counselor cadre is making the workload of more skilled health workers more manageable and increasing HIV acceptance in communities. The average score on a work-related knowledge test was 74.5%. However for 3 questions, less than half answered correctly. During observations, lay counselors demonstrated average competence for most skills assessed and clients (97.9%) were satisfied with services received. From the survey, lay counselors generally reported being comfortable with their duties; however, some reported clinical duties that extended beyond their training and mandate. Multiple factors affecting the performance of the lay counselors were identified, including insufficient resources, such as private counseling space and HIV test kits; and technical, administrative, and supervisory support.

Conclusion

Lay counselors are fulfilling an important role in Botswana''s healthcare system, serving as the entry point into HIV care, support, and treatment services.

Recommendation

For this and other similar task shifting initiatives, it is important that lay counselors'' responsibilities are clear and that training and support are adequate to optimize their effectiveness.     

Periodical abstracts

Abstract

This research analyzed physicians’ attitudes toward and use of genetic counseling. Data were obtained through mailed questionnaires sent to all 445 general and family practitioners, pediatricians, and obstetrician‐gynecologists in private practice and involved in direct patient care in Maricopa and Pima Counties, Arizona. Results indicated strong attitudinal support for genetic counseling. Almost all respondents felt that it was a useful and necessary medical service, and most felt that it resulted in more responsible patient decisions. Actual genetic counseling by physicians was comparatively rare, however. The data suggested that the paucity of counseling may have derived from a lack of training in genetics, scarcity of patient requests, and legal naïveté. Genetic counseling, amniocentesis, and abortion received the most support from younger physicians, obstetrician‐gynecologists, and those who were Jewish, less religious, and had few or no children.     

Gendiagnostikgesetz

The enormous advances in human genetics contribute almost daily to the identification of new disease-causing genes. The consequences of this genetic information are of significant importance in the personal management of a disease and individual life planning. Genetic counseling provides information on the nature of the disease, the importance of genetic findings, preventive measures, diagnosis and therapy. This information forms the basis for an autonomous decision. Since 1st February 2010 the Human Genetic Examination Act (Genetic Diagnosis Act, GenDG) has been regulating the use of genetic tests, the use of genetic samples and data in humans. It also defines genetic counseling requirements. As of the 2nd February 2012 only those physicians who have gained an appropriate qualification may perform genetic counseling.     

Genetics providers and the family covenant: connecting individuals with their families

As genetic testing becomes more commonplace, medicine will likely face both family and individual demands for access to, and control of, test result information. Past research has emphasized confidentiality concerns of the individual and contrasted these claims with the "need to know" by others to avoid harm. These confidentiality concerns, based on individual self-interest, are challenged by a singularly important aspect of genetic testing-familial responsibility. As patients are often motivated to obtain genetic testing by an array of "other-directed" considerations toward their own family (such as love, fiduciary responsibility, gratitude, etc.), an accounting of these concerns is warranted. Understanding the relevance of family relationships and obligations facilitates a fuller informed consent for genetic testing. Genetic counselors and geneticists engaging in genetic counseling can account for the concerns of both individuals and their families using the family covenant-a helpful, innovative model to address proactively boundaries of privacy and information sharing within the family. This model focuses on two areas of discussion: (1) the demarcation of the boundaries of confidentiality; and (2) the definition of "family." The family covenant helps genetics providers consider what information "should" be confidential, and with respect to whom.     

遗传测试和遗传咨询

遗传物质的突变,包括基因突变或染色体畸变,是遗传病发生的根源,也是区别于其他疾病的基本特点。大力开展遗传测试及筛查,及时检出遗传病患者及致病基因携带者,是提高人口素质,促进家庭幸福、社会繁荣、国家昌盛的唯一可行的方法。遗传咨询对于检出遗传病患者及致病基因携带者,并进行有效、可行的婚姻指导、生育指导,以减少或防止遗传病患儿的发生和发病,发挥着相当重要的作用。在产前诊断中涉及疾病胎儿处理的道德选择问题上,遵循四项基本准则：第一,尊重夫妇双方的选择;第二,对个人和家庭不产生伤害;第三,产前诊断的结果可靠;第四,产前诊断和遗传咨询的自愿性。这些准则无疑在世界各国有着共同性。