Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some professional organizations that CF screening should be offered or made available to pregnant women and their partners, and to couples planning a pregnancy. It is crucial that genetic counselors gain thorough understanding of the complexities of CF and the implications of positive test results, so that they may serve as a reliable, educated referral base and resource for health care providers and their patients. While not all pregnant women will be referred for genetic counseling prior to CF carrier testing, genetic counselors often will be asked to counsel clients after they have a positive test result, or who are found to be at increased risk. Genetic counselors can play an important role in providing accurate and current information as well as support for patients informed decisions. These recommendations were created by a multicenter working group of genetic counselors with expertise in CF and are based on personal clinical experience, review of pertinent English language medical articles, and reports of expert committees. The recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care providers professional judgment based on the clinical circumstances of a particular client.     

The ethical assessment of innovative therapies: Liver transplantation using living donors

Liver transplantation is the treatment of choice for many forms of liver disease. Unfortunately, the scarcity of cadaveric donor livers limits the availability of this technique. To improve the availability of liver transplantation, surgeons have developed the capability of removing a portion of liver from a live donor and transplanting it into a recipient. A few liver transplants using living donors have been performed worldwide. Our purpose was to analyze the ethics of liver transplants using living donors and to propose guidelines for the procedure before it was introduced in the United States. We used a process of “research ethics consultation” that involves a collaboration between clinical investigators and clinical ethicists. We concluded that it was ethically appropriate to perform liver transplantation using living donors in a small series of patients on a trial basis, and we published our ethical guidelines in a medical journal before the procedure was introduced. We recommend this prospective, public approach for the introduction of other innovative therapies in medicine and surgery.     

Longitudinal associations between the quality of parent-child interactions and children's sleep at preschool age

This study aimed to examine the prospective longitudinal links between the quality of mother-child and father-child interactions and preschoolers' sleep. Three dimensions of maternal interactive behavior were considered using 70 mother-child dyads, while the quality of father-child interactions was assessed using 41 of these families. Maternal mind-mindedness was assessed at 12 months during a mother-infant free-play sequence, maternal sensitivity was rated at 12 months based on observations performed throughout a home visit, maternal autonomy support was assessed at 15 months with a 10-min problem-solving situation, and the quality of father-child interactions was scored at 18 months, during father-child free play. Children's sleep was assessed at 3 and 4 years using a sleep diary completed by mothers during 3 consecutive days. Results indicated that, after controlling for family socioeconomic status and daycare attendance, the quality of both mother-infant and father-infant interactions was positively related to children's percentage of night-time sleep at preschool age. These findings add to previous literature in suggesting that early caregiving behavior by both mothers and fathers is related to subsequent child sleep.     

College students' choices of study strategies

For a closed-book examination, study strategies that could promote deep processing correlated positively with scores but were not likely to be used by the 46 students. For an open-book, open-note examination, strategies that might have led to confusion regarding the locations of material in the textbook and lecture notes correlated negatively with scores, although they were not likely to be used by the 58 students.     

The unity of science

The paper addresses the question of how the unity of science can adequately be characterized. A mere classification of scientific fields and disciplines does not express the unity of science unless it is supplemented with a perspective that establishes a systematic coherence among the different branches of science. Four ideas of this kind are discussed. Namely, the unity of scientific language, of scientific laws, of scientific method and of science as a practical‐operational enterprise. Whereas reference to the unity of scientific language and of scientific laws does not provide a viable basis for the unity of science, the methodological and practical unity might. The unity of science can be characterized by the way in which methodological criteria enter into the assessment or evaluation of theories, and, moreover, by a transdisciplin‐ary approach to problems. Accordingly, the unity of science is not expressed by theoretical uniformity but by the unity of scientific practice.