30 years in the making: Historical 'markers' in the evolution of a database which is now called Berner-Garde by B. G. Packard 10/00

In 1971, when the BMDCA was 3 years old, and there were no regional clubs yet, the first entries were made in a database that became the backbone of the Berner-Garde Foundation. It is not surprising that the idea was born in the Silicon Valley of the SanFrancisco Bay area where the Packards attended a course at UC Santa Cruz to learn how to use the SPSS program (a punchcard input to a time-share mainframe) to computerize the data on growing numbers of Berners. It started with recording their vital statistics, their people connection and beginnings of health records by adding the first three OFA hip-screening numbers 1, 2, and 3. When the S.F. Bay Berners was formed in 1974, this program was adapted to also keep the necessary club records.
In Novermber, 1985, when the SFBB heard that Dr. George Padgett, MI State, was interested in finding out what breed clubs were doing anything about genetic defects, it was arranged to show him this database. It was reassuring to find that this was the first program he had seen that was adequate to fill the needs for the open-type registry that he was promoting as necessary for genetic disease control by breed groups. The message was made clear that the location of affected animals in a family was the only way to locate the ones that carried disease genes but did not show it themselves.
In 1986, this database was first displayed as a national database at the San Francisco BMDCA Specialty.
In 1989, a study of cancer in the BMD was launched on an entire-breed basis with Morris Animal Foundation matching a BMDCA Grant. This study was published in 1995 in the Journal of Small Animal Practice, using the data from the above described database. Up to this point, all of the cases had been entered by the same person, a BMDCA member.
Also in 1989, an international meeting of experts on elbow dysplasia recommended the formation of an open-type registry in the USA. When OFA declined this request, the GDC was born (Genetic Disease Control in Animals Service).
In 1994 the BMDCA arranged for the GDC to set up tumor registries which were appropriate for the continued collection of BMD inherited tumors as noted in the soon-to-be-published manuscript as well as all other tumors for further research. This made it possible for cases to be entered by persons outside of the breed membership and for the data to be added to the KinReport of the GDC which is the tool that allows breeders to improve their choice of breeding stock. For BMD, this includes screening exams for joints, eyes, subaortic stenosis and epilepsy.
After several years of waxing/waning interest and concern at national level in the activities that were necessary to maintain the database, a steering committee proposed that the Berner-Garde Foundation be incorporated. One of the observations that was made repeatedly in different breed groups was that the persons that do well at managing 'clubs and AKC events' may not be qualified or primarily interested in addressing the sensitive area of genetic health issues. The Steering Committee supposed that the Foundation would be the center of health activities and would assure that the database and its services would be managed by persons who accepted that primary responsibility "to facilitate the orderly acquisition and dissemination of information related to genetic traits in Bernese Mountain Dogs and to provide for the perpetuity of the database". From the start, one of the responsibilities at both the Berner-Garde and GDC levels has been the evaluation of where to draw the line that prevents invasion of privacy. The advent of websites has increased the need for this understanding. In 1995, the Berner-Garde Foundation was incorporated and received nonprofit, tax-exempt status.

Some notes for understanding the relationship of breed databases like the Berner-Garde Foundation to the professional Disease Registries and Research Databases of the GDC:

Malcolm B. Willis, genetist at the University of Newcastle on Tyne says that "while the bioengineers are busy trying to assess the location of gene A or gene B, breeders can document what is happening in their breeds in somewhat broader terms." He says that scientists who develop tests for various diseases need access to pedigrees, along with as much data about the lines as possible. "If they haven't already done so, parent clubs need to set up open databases for members to submit data on every bitch mated and every litter bred, listing the consequences of the matings and the fate of the litters." He says there is urgent need to track litters, sex born, survival and date and cause of death; what defects occurred and how were they diagnosed; fertility figures are useful as well; how many bitches miss and why; how common are monorchids. How many are born with mismarking or wrong color. He mentions that raw data collected at breed level can be a help in assessing the mode of inheritance of some defects or point the way to a more complex, polygenic route.

Dr. George A. Padgett, retired, Michigan State pathologist, first person to lobby extensively for the use of open disease registries in the USA, offered the following description:
A breed database might be considered as a repository of anomalies or other characteristics of a breed which may help a breeder potentially alter the basic biology of their breed such as longevity, litter size, color (both coat and eyes), and minor physical abnormalities like tail kinks. These characteristics do not require the rigorous diagnostic procedures which are necessary for the diagnosis of disease entities. The knowledge of a confirmed disease will and should be used by breeders to predict the occurrence of disease or carrier status in their litter as a result of their choice of a mate. Since these predictions will influence the choice of individual animals in given mating situations, the basis of the disease information must come from widely accepted diagnostic procedures. The storage point of the disease information must be the formal Registry.

Role of the GDC
Dr. Padgett says that responsible breed clubs "should seek help from an institute like the GDC to establish open Registries for the diseases in the breed that are known to be hereditary and establish Research Databases for the diseases suspected to be hereditary. These programs will become the source of known or potential carriers of certain genetic defects and of animals known to be clear of certain genetic defects." "It is the obligation of the breeder to "register all animals that are known or potential carriers with an appropriate open disease registry." He reminds us of "the importance to substantiate all data and agree on whose evaluation will be acceptable."
At the request of a breed club, the GDC will set up a Registry for diseases that are known to be inherited, with properly diagnosed cases for use in establishing breed averages of occurrence and genotype risk predictions. This makes it possible for breeders to select stock which is predicted to improve the breed by being better than the current average for the breed. For diseases that are suspected to be inherited, GDC will set up a Research Database for gathering data to use in proving or disproving the genetic nature of a disease in a particular breed.

Release Statement All diagnoses that are released to be registered at the GDC are submitted with an owner release statement and a pedigree of the dog. The procedure for getting samples from the dogs that are screened, for getting the samples to the proper evaluator to be diagnosed and then for getting that diagnosis into the GDC registries will vary depending upon the disease. For diseases that are diagnosed by radiograph, it is sent to the GDC where it is sent to their panel of experts; for diseases diagnosed by tissue sample, the sample is sent to specified pathologists, who in turn send the release form with their evaluation to the GDC for registration; for diseases identified by DNA, the sample is sent to the particular lab which identifies that DNA, then the resultant finding is sent to the GDC to be registered in that specific breed file, and so on. All of these diagnoses will be linked together in a KinReport that ties together all sibs and half-sibs that have been registered at the GDC.

Observing Trends of occurrence of not-known-to-be-hereditary diseases........A breed database like the Berner-Garde is a model of what can be accomplished with a collection of data that is voluntarily submitted by dog owners without the requirement that it must be substantiated by a third party. It is possible to note trends which can be investigated. For instance, during early days of data entry, it was noted that reports of tumors were becoming numerous enough to draw attention. Another trend that has been noted is the number of reports of epilepsy, either psychomotor seizures or convulsions. Etc..
In a different category are the reports of increasing numbers of SAS or PRA cases being registered. These diseases are already accepted by the veterinary community as being hereditary so the increase can be attributed to increase in numbers of carriers that can then be identified in the population.

10/21/01 Note from BGP: This article was written just one year ago, responding to a request from the editor of the Canadian BMDC newsletter. An important sequal to this history is the question: What is the relation of these databases to the currently developing AKC/OFA database called CHIC?