Defining and redefining the scope and goals of genetic counseling

Many definitions of genetic counseling have been proposed since Sheldon Reed first defined the term in 1947. This study reviews selected definitions of genetic counseling including the most recent definition proposed by a committee of the National Society of Genetic Counselors. The analysis focuses on the professional background of who was formulating the definition; the reasons why the definition was created; medical, historical, and social factors; and the definer's implicit or explicit goals of genetic counseling. No definition of genetic counseling is ideal, and any definition can only reflect the values, ethics, goals, and medical practices of the person or group defining the practice of genetic counseling.     

Effect of a family planning program on documented emotional support and reproductive goals counseling after previable pregnancy loss

ObjectivesTo evaluate the effect of the Ryan Program for family planning training on patient counseling surrounding previable pregnancy loss.MethodsWe conducted a retrospective cohort study of patients with first- and second-trimester miscarriages, therapeutic abortions, ectopic and molar pregnancies, from years before and after establishing a Ryan Program. We compared documentation of coping and future reproductive goals by patient factors, using chi square testing and logistic regression.ResultsWe included 285 pregnancies: 138 pre-Ryan, 147 post-Ryan. Documentation of coping and future goals was greater post-Ryan than pre-Ryan (57.8% vs. 26.8% for coping, 72.8% vs. 50.7% for goals; both p < 0.001). Coping was less likely to be documented for adolescents (aOR 0.02), patients of Asian race (aOR 0.08), those diagnosed in the emergency department (aOR 0.22), and those with ectopic or molar pregnancy (aOR 0.14) (all p < 0.005). Coping documentation increased with second-trimester loss (aOR 6.19) and outpatient follow-up (aOR 3.41) (all p < 0.005).ConclusionsEstablishment of a Ryan Program was associated with greater attention to patient coping and goals after previable pregnancy loss. Patients experiencing medically-dangerous pregnancy losses receive less attention to their coping.Practice ImplicationsComprehensive family planning training and outpatient access may improve patient-centeredness of care for previable pregnancy loss.     

Clinical indications for patient counseling

An analysis of patient care data from nationwide surveys of general practitioners, family practitioners and internists was conducted to identify clinical factors associated with patient counseling. Results of the study indicate that high rates of counseling occur when the physician identifies addiction to alcohol, drugs or tobacco, depression/anxiety, or nutrition/weight as the patient's primary problem. Lower than average rates of counseling were found for care of eye, ear, nose, and throat problems, upper respiratory infections and allergies. Rates of counseling were found to be positively associated with the number of problems the patient had and the amount of time the physician spent with the patient.     

Setting quality goals for laboratory tests

The ideal situation with regard to quality assurance in clinical pathology would be that quality goals in numerical format were available for all the practicability and reliability characteristics of laboratory tests, particularly the latter. Many strategies have been used for the setting of quality goals for the most important reliability characteristics, namely, imprecision and bias. These have included fractions of the reference interval, opinions of clinicians, the state of the art, views of expert individuals and groups, the influence of analytical error on clinical utility and biological variation. All of these have advantages and disadvantages. In spite of some interesting recent proposals, quality goals based on biological variation appear to be the best currently available and seem to have led to a consensus among Europeans that, in simple terms:

1. desirable maximum imprecision < one-half the within-subject biological variation,
2. desirable maximum bias < one-quarter the group [within- plus between subject] variation, and
3. maximum difference between methods < one-third the within-subject biological variation. There appears a need for further work in setting quality goals for laboratories which deal with samples from animals; international collaboration has proved productive in human clinical biochemistry and may be worthy of emulation.

     

Confidentiality in counseling for X-linked conditions

Genetic counseling in a synthetic fragile-X family is used to illustrate some dilemmas which may arise from the genetic counselor's wish to respect the patient's confidence. What is the counselor's obligation towards family members who are unaware that they are carriers? Should the counselor try to avoid disclosing information concerning such family members to the patient, and if so - how? May the future father of an affected fetus be prevented from participating in the reproductive decisions concerning that fetus, out of respect for the mother's wishes?     

Genetic counseling for prostate cancer risk

Major risk factors for developing prostate cancer, including positive family history and African-American ethnicity, can be quantified for genetic counseling. Factors increasing familial risk for prostate cancer are closer degree of kinship, number of affected relatives, and early age of onset (< 50 years) among the affected relatives. Genetic testing may be useful for modification of risk, but currently should be performed only within the context of a well-designed research study that will determine penetrance and genotype-phenotype correlation of specific mutations. Even in the absence of genetic testing, African-American men and men with a strong family history of prostate cancer may opt to initiate screening by prostate specific antigen (PSA) and digital rectal exam (DRE) screening at age 40.     

Genetic counseling for sex chromosome abnormalities

Sex chromosome abnormalities (SCAs) are the most frequently occurring chromosomal abnormalities encountered at both prenatal diagnosis and at birth. Approximately 1/400 newborns has an SCA, and incidence at prenatal diagnosis is even greater, 1/250 to 1/300. Physicians and health providers from various specialties are encountering diagnoses of SCAs with increased frequency as more individuals are becoming identified, both prenatally and postnatally. Because these conditions generally have relatively few serious physical implications and because they are extremely variable, genetic counseling is often more complex and challenging than that occurring with an autosomal abnormality. It is imperative that health professionals have the knowledge of content and methodology to provide appropriate counseling to such individuals and their families. During the period from 1964 to 1975, seven international groups (including the Denver group) screened a total of 199,898 consecutive births and identified 307 individuals with SCA. The Denver group has followed more than 40 such individuals from birth to adulthood. In addition, the Denver group has experience in counseling over 1,000 families with a prenatal diagnosis of SCA. Based on these studies and contacts, guidelines for the counseling of individuals and families with SCA are provided. Accurate information must be presented and the variability and imprecise prognosis recognized. Successful counseling strategies include interfamily contact, viewing photographs, and utilizing support groups. Issues of disclosure, follow-up, and anticipatory guidance should be addressed.     

Perception of theoretically derived counseling approaches as a function of preference for counseling orientation

Examined the relationship between preference for major counseling orientations and perception of counselor behavior in theoretically derived counseling interviews. Seventy-seven undergraduate students viewed demonstration interviews by Rogers and Lazarus, rated the counselor behavior on the Counselor Rating Form, and were assessed in their endorsement of seven major counseling orientations. A regression analysis performed on the preference scores for seven counseling orientations (predictors) in response to the counselor perception scores on the Counselor Rating Form showed a significant relationship only between the client-centered orientation and Rogers. Lazarus was not predicted from any of the seven orientations. Additional analysis of the Counselor Rating Form data revealed that Lazarus was perceived as more expert, attractive, and trustworthy than Rogers. The results are discussed in relation to previous studies.     

From nurse-centered health counseling to empowermental health counseling

The main goals of this study were to examine aspects of the delivery and reception of advice and questions in interaction between nurses and patients and to describe linguistic features that constructed nurse-centered and empowermental health counseling. The research data, 38 health counseling sessions, were videotaped, transcribed verbatim, and analyzed by using an adaptation of conversational analysis. During nurse-centered discussions, the nurses' advice did not correspond to the patients' need for information. These counseling sessions began with check-up questions about the patients' condition and continued with factual questions about their illnesses and health care measures. During empowering health counseling, the nurses made use of the patients' knowledge of their circumstances and supported the patients' ability to reflect on their health behavior. Questioning and advising strategies were found to be crucial for building up empowermental conversation and enhancing the impact of health counseling.     

Genetic counseling and ethical issues for autism

Exciting progress is being made in the journey toward discovery of genes conferring risk for autism and autism spectrum disorders. Currently, genetic counseling for idiopathic autism rests on clinical diagnosis and empiric risk estimates. While no genetic test for risk of autism currently exists, it is possible that such a test may emerge in the near future, and that commercial availability may precede adequate understanding of test characteristics. The complexity of multifactorial conditions like autism raises a host of ethical and counseling challenges. For families to benefit from new genetic knowledge about autism, it will be important for their practitioners to be knowledgeable about the issues, utilize appropriate educational interventions and emerging management options, and help families across the cultural spectrum cope with these challenges.