The Principles of Clinical Cytogenetics - Extra Materials - Springer

110 Michael Watson and Steven Gersen
point in time, the major difference between France and the United States is that only an MD can
interpret and report cytogenetic results in France, whereas in the United States, many laboratory
directors are PhDs
Requirements and guidelines for other European countries vary widely at the present time. Some
have detailed policies, some use those of other countries, and some have no formal guidelines in
place, although individual laboratories may.
JAPAN
In 2001, the Japan Clinical Reference Laboratory Association, now the Japan Registered Clinical
Laboratories Association, polled 442 reference laboratories and found that 33 were conducting
genetic tests. However, no distinction was made between cytogenetics and molecular analysis, and
so the number of laboratories actually performing chromosome analysis remains unclear. It should
also be noted that since the poll was administered independently of the Japanese Society of Human
Genetics (JSHG), a portion of the facilities conducting such tests may not have been included.
As of April 1, 2000, the JSHG had certified 43 facilities as cytogenetics laboratories. These include
both commercial laboratories and hospital laboratories. However, the Ministry of Health and Labor,
which oversees clinical testing in Japan, does not recognize clinical cytogenetics laboratories as distinct
entities despite the fact that the tests themselves are so recognized. Beginning in 2004, national
laboratory inspection guidelines are to include a category for cytogenetics, although the cytogenetics
laboratory itself continues to go unrecognized officially as a distinct entity, in contrast, for example,
to the pathology laboratory.
The JSHG has several policies that are designed to ensure that clinical cytogenetics laboratories
achieve and maintain the highest possible standards. It has developed a Board that is comprised of
Medical Geneticists (MDs) and “Instructors of Clinical Cytogeneticists” (PhDs). This Board has
formulated requirements for training and qualifications for certified clinical cytogeneticists (technologists)
and instructors, and has created an examination for certifying those individuals who have
completed the prescribed requirements.
Candidates must go through a training period during which they must process at least 100 samples
representing various tissue types. They must demonstrate proficiency in all phases of specimen preparation,
culture and harvest, and analysis. A candidate must also be a member of the JSHG, and must
be listed as an author on at least three papers.
The JSHG holds annual seminars designed to keep these certified individuals up to date, and
regional seminars are also held.
Despite these recent developments, only physicians are still allowed to make clinical interpretations
of test results. Many reference laboratories get around this problem by retaining the services of
qualified MDs as technical advisors. The relationship between doctor and laboratory in Japan is
certainly still quite different from that in the United States.
AUSTRALIA
In 1979, Australia established its National Pathology Accreditation Advisory Council (NPAAC).
This body makes recommendations concerning the accreditation of pathology laboratories, introduces
and maintains uniform standards of practice, and formulates guidelines and educational programs
relating to the performance of laboratory testing throughout the commonwealth. Based on
guidelines provided by the Human Genetics Society of Australia (HGSA), the NPAAC produced
guidelines for cytogenetics labs in 2001 and recommended that these be reviewed in 3 years time.
These guidelines are quite extensive, dealing with every aspect of laboratory function from staffing
and staffing levels to equipment, confidentiality, laboratory, chromosome analysis and karyotyping
protocols, clinical reports, and quality. There is also a section on FISH, and one on acceptable
turnaround times.
In Australia, the creation of karyotypes is recommended, but not considered essential. Qualifications
of individuals directing and supervising a cytogenetics laboratory were created by the HGSA in