"Is it going to hurt?": the impact of the diagnostic odyssey on children and their families.

The pediatric diagnostic odyssey is a period of uncertainty and emotional turmoil for families, often characterized by multiple minor medical procedures (such as venipuncture) that children may find distressing. Interventions to reduce distress are rarely offered, despite evidence that this is crucial both for avoiding anticipatory anxiety before future procedures and for improving healthcare compliance in adulthood. We interviewed ten mothers of children with neuromuscular disorders, asking about their perceptions of their child's experiences with different medical procedures, the emotional impact of the diagnostic odyssey, implications of obtaining a diagnosis, and interactions with healthcare providers.

NIPT: current utilization and implications for the future of prenatal genetic counseling.

Background: Non-invasive prenatal testing (NIPT) for select fetal trisomies became clinically available in 2011. When it was introduced, there were no recommendations from the major governing bodies in prenatal genetics regarding its incorporation.

Purpose: We sought to determine how genetic counselors have incorporated NIPT into clinical practice and how NIPT has changed the informed consent process.

Genetic counselors' views and experiences with the clinical integration of genome sequencing.

In recent years, new sequencing technologies known as next generation sequencing (NGS) have provided scientists the ability to rapidly sequence all known coding as well as non-coding sequences in the human genome. As the two emerging approaches, whole exome (WES) and whole genome (WGS) sequencing, have started to be integrated in the clinical arena, we sought to survey health care professionals who are likely to be involved in the implementation process now and/or in the future (e.g.

DNA-sequence patenting: National Society of Genetic Counselors (NSGC) position paper.

In November 2000, the Genetic Services Committee of the National Society of Genetic Counselors (NSGC) convened a working group to draft a position paper on patenting DNA-sequences. The mandate of the group was to produce general position statements that support the perspective and needs of consumers of DNA-based genetic tests and therapies (our patients and their families) and participants in DNA-based genetic research. After review and discussion of the literature on DNA-sequence patenting issues, the working group drafted position statement points that support current United States Patent and Trademark Office (USPTO) guidelines; broad licensing of DNA-sequence patents; nonenforcement of DNA-sequence patents in noncommercial research; reasonable royalty rates; an informed consent process for research participants that discloses whether they can share in any financial rewards relating to the project; the development of guidelines for licensing of DNA-sequence patents; and the establishment of oversight organizations to monitor licensing of DNA-sequence patents.

Cystic fibrosis and chromosome abnormalities associated with echogenic fetal bowel.

Objective: To determine the prevalence of cystic fibrosis mutations and chromosome abnormalities in the fetuses of a heterogeneous population of pregnant women referred for prenatal testing for echogenic fetal bowel.

Methods: Fetal or parental samples obtained after a second-trimester sonographic finding of echogenic fetal bowel were submitted to a referral diagnostic laboratory during a 2-year period. Results of DNA testing and karyotyping on these samples were analyzed to determine the prevalence of cystic fibrosis transmembrane reductase gene mutations and chromosome abnormalities.