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Clinical Geneticist provides new development in care

17 May 2017

CAY HILL–Dr. Mieke van Haelst, Clinical Geneticist at the Academic Medical Center (AMC) and Free University Medisch Center (VUMC), Amsterdam, teamed up with St. Maarten Medical Center (SMMC) during her visit to the country in an ongoing effort towards advancement in care given to patients with congenital abnormalities.

Van Haelst, who specializes in Paediatric Clinical Genetics, has been visiting St. Maarten once a year for the last four years, offering genetic consultation services for (parents of) patients with congenital abnormalities, also known as birth defects. She has also been providing teachings to medical professionals on the island about these (hereditary) conditions.

This year, for the first time, Dr. Van Haelst collaborated with the Cardiologists at the medical center to tackle the issue of Sudden Cardiac Death (SCD) in St. Maarten, which occurs due to sudden loss of heart function. Families with children at risk for the condition have been requesting more information on this topic and, together with SMMC, Dr. Van Haelst has been providing them with the necessary answers and possibilities of genetic testing for this condition.

Additionally, on Thursday, May 4, Dr. Van Haelst along with Dr. Pieter Offringa, Paediatrician of SMMC, gave a lecture at SMMC about genetics, particularly with regard to St. Maarten.

For the last two years, Dr. Van Haelst has been working with the Sister Basilia Center as part of her research on birth abnormalities in combination with intellectual deficit syndromes, and she has been providing consultation to the families of the patients. She has dealt with conditions related to heart abnormalities, epilepsy, and growth retardations, amongst many other issues that she has been able to diagnose on the island.

Through advancement in the field, a new diagnostic test has improved detection of abnormalities in the genetic material causing these conditions. This progressive method is known as the Whole Exome Sequencing (WES). It allows specialists to analyze a significant amount of genes at one time thereby making it more efficient and effective to diagnose the presence of genetic diseases or raise suspicions thereof. Since applying this method Dr. Van Haelst has been able to make a diagnosis in all children suffering from rare congenital conditions that were selected to have this new genetic test.

The availability of this specialty and this diagnostic on the island is a benefit to the community. For many parents with children diagnosed with congenital abnormalities Dr. Van Haelst can offer them information, reassurance and future guidance. It offers timely diagnosis of conditions, thereby decreasing the need for continuous testing. Families are able to get answers much sooner and learn how to prevent and prepare for future complications. Parents can also be informed of the chances of a reoccurrence of genetic conditions in future pregnancies.

Dr. van Haelst visits the island once a year, but her efforts continue from afar nonetheless. Even in her absence she remains active by requesting genetic testing based on electronic consultations so on her return to the island she can give explanation on what she has discovered and offer guidance on how best the patient and their families can move forward.

Dr. Van Haelst started her work in the Caribbean in 2011. At the time she visited Curaçao to train Paediatricians on Clinical Genetics. Soon thereafter she began to offer consultation services to a few patients, but over time demand for her expertise and services grew significantly in Curaçao, whereby she eventually had many more patients. Interest in her specialization continued to grow as well from colleagues in Aruba, Bonaire and St. Maarten.

As the care demand for Clinical Genetics increases the need for additional research on genetic conditions grows. Together with her colleagues at AMC-VUMC, Dr. van Haelst intends to expand her research and services on the island. This is part of the ongoing research being done on birth abnormalities and syndromes.

Her specialty and the new genetic test methods she uses bring much added value to the island, particularly to parents that have children with congenital abnormalities, syndromes or suspicions thereof. The field of Clinical Genetics continues to progress and the Caribbean cannot afford to lag behind in the developments.

Dr. Van Haelst remains stationed in the Netherlands, but continues to work closely with the Paediatricians of SMMC. This will continue to strengthen the relationship between SMMC and AMC-VUMC, particularly in the field of Genetics. As for now, Dr. Offringa will remain the contact person on this topic in St. Maarten.

Source: The Daily Herald, St. Maarten

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