Misinterpretation of TPMT by a DTC genetic testing company.

23andme has suspended marketing of health-related reports due to US Food and Drug Administration approval violations. This has fostered discussions on the actual risks associated with consumer use of these reports. In the case described below, rare genotypes for the gene encoding thiopurine methyltransferase (TPMT) were misinterpreted by a direct-to-consumer (DTC) company, and risk calculations for breast cancer were offered when accuracy was not possible from the available information. Politics aside, these examples illustrate risks associated with DTC genetic testing without professional interpretation.

Concordance between site of onset and limb dominance in amyotrophic lateral sclerosis.

BACKGROUND: Focality of onset of amyotrophic lateral sclerosis (ALS) is not understood. Attempts to implicate physical exercise in the aetiology of ALS have provided inconsistent results. If physical use of a limb were important in defining the site of onset, then handedness might be expected to influence the side of upper limb-onset disease and footedness likewise in lower limb-onset ALS. METHODS: ALS patients registered with an internet-based support site were invited to complete an online questionnaire concerning site of onset of symptoms and their dominant hand and foot. A binomial test of proportions was used to investigate the null hypothesis that handedness and footedness do not influence side of onset in upper and lower limb-onset ALS, respectively. RESULTS: 343 ALS patients with limb-onset disease were studied. For upper limb-onset patients, there was concordance for side of onset and handedness (64%; p<0.0006). For lower limb-onset patients, concordance for side of onset and footedness was absent. The frequency of left handedness was commensurate with that found in the general population. INTERPRETATION: These results are potentially consistent with the hypothesis that exercise influences pathogenesis in ALS since routine physical demands on the upper limb are heavily influenced by limb dominance, whereas in the lower limbs the commonest function is standing or locomotion, which uses both legs equally. However, there may also be an inherent cortical vulnerability underlying upper limb-onset laterality, possibly influenced by changes in neuronal connectivity and cortical excitability in relation to handedness and reflected by the "split hand" phenomenon consistently observed in ALS.

The pregnant adolescent--a group approach.

This paper has described the groups for pregnant teenagers developed in the Rochester Adolescent Maternity Project. One and one-half year's experience with these groups has allowed the authors time to begin their study of groups and to write a descriptive paper of their evolution. The groups' development goes on while the leaders continue their own theoretical study of groups at this writing. Groups for pregnant adolescents have ranged from group therapy sessions to structured groups where only didactic material is presented. The literature is somewhat limited in its discussion of types of groups and especially in describing group process. This paper differs from others in that both group structure and process, based on the group objectives, are discussed. Information on approaches beneficial to the adolescent have been included. The goals of the group are to help the teenagers work through the developmental tasks of adolescence and pregnancy and to prepare them for the labor, delivery, and initial parenthood experience. Group structure is based on the intent to engage teenagers in resolution of these tasks in order to be prepared at a variety of levels, i.e. cognitive, emotional, etc., for labor, delivery, and parenthood. Co-leadership of the groups and an unstructured format facilitate the movement of the group toward accomplishment of its objectives. Group content issues were explored and techniques developed to handle these issues were suggested. Included were the following: 1. Commitment to the group by the members is assisted by the structure set for the group and the leaders' active outreach to members. 2. Descriptions of emotions and thoughts are made in concrete rather than abstract terms because of the developmental status of the teenagers. 3. Expression of personal feelings, often difficult for teenagers, is aided by the use of a projective technique. 4. Transition from leader-oriented to group-directed discussion is made possible by the group leaders gradually changing their leadership from one of direct interaction to one of facilitating discussion. 5. Polarization of the group in a negative or positive direction is prevented through the use of a neutral group member or active intervention by the group leaders taking on a neltral role. 6. Control, an issue of pregnancy and adolescence, is dealt with on interactional, educational, and emotional levels. 7. Termination is determined by the stage of the group "work" and is identified and facilitated by the group leaders. Research questions needed to document the effectiveness of the group approach to the pregnant adolescent were addressed.