AB030. The evolving role of genetic counseling
Bibliographic record
Abstract
Master level genetic counseling training programs have existed in the United States of America (USA) since 1969. There are now 31 programs to train genetic counselors in the USA, 4 programs in Canada, and 2 programs in Australia. These programs generally train non-medical health professionals (individuals with a BSc or MSc). There are 25 additional programs worldwide, training a combination of physicians, nurses, and non-medical health professionals. Students in the USA, Canada and Australia are required take a certification examination and licensure privileges dependent on the rules of a specific state or providence. The roles of genetic counselors have evolved with genetic medicine. Initial work of genetic counselors involved predominately direct patient care in the prenatal, pediatric and adult genetic clinics. When a hereditary component to cancer was recognized, there was an increasing need for genetic counselors for the consultation and results interpretation in cancer care. With the completion of the Human Genome Project in 2003 and the decreasing cost of next generation sequencing, there has been a plethora of molecular genetic studies that have been available to the genetics provider. Many genetic counselors have migrated to the laboratory setting to assist providers with the selection and interpretation of laboratory studies. With this great expansion of genomic testing available, there has been a concomitant identification of genomic alterations of uncertain significance that require extensive evaluation to determine clinical significance. Genetic counselors have been essential for this work in both the research and clinical setting. Genetic counselors have been recognized as one of the most needed health care professionals in the USA in the next decade. The role of the genetic counselors in emerging countries is complex with the simultaneous need for direct patient care and the support of laboratory services. The development of programs in emerging countries will need to train students with a broad spectrum of skills to include both direct clinical care and to understanding the current complexities of genomic testing. Anticipating social and emotional needs of multiple populations within a country will be an ongoing challenge. Commitment of trained professionals from established clinical genetic programs can facilitate educational support for programs in emerging countries. With this Asia Pacific Meeting, there was a preconference to support genetic counseling in the region. The results of the questionnaire presented to the 70 attendants of this pre-conference will be presented with projections of future needs for genetic counseling training in this region.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.003 | 0.006 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.004 | 0.002 |
| Open science | 0.002 | 0.003 |
| Research integrity | 0.006 | 0.004 |
| Insufficient payload (model declined to judge) | 0.436 | 0.241 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".