Genetic diseases are the main cause of death among infants and are responsible for 20-30% of the total annual infant mortality rate¹. Everyone carries mutations in their genes but not all mutations are pathogenic, i.e. have an effect on our health and development. Genetic diseases are caused by mutations and can be either dominant – caused by a pathogenic mutation in just one copy of a chromosome, or recessive – caused by pathogenic mutations in both copies. If someone has a recessive mutation in only one copy of the gene, that person is considered a “carrier”, but has not inherited the disease.
Usually, carriers of genetic diseases are not aware of their status as they do not exhibit any symptoms and can pass it down to their children. Carrier screening tests that can inform individuals whether they are carriers of a genetic disease, are crucial to minimize the risk of transmitting the disease to their children. When testing is carried out before pregnancy, it can provide information that can guide reproductive choices and offer more time to take appropriate decisions. In case carrier screening is performed during pregnancy, it can help parents better prepare for the birth of their children. Some genetic diseases that are frequently prevalent and have moderate to severe clinical phenotype, can affect quality of life and can often be managed through early interventions.
The results of a carrier screening test can be either positive, meaning that a pathogenic or likely pathogenic mutation has been identified and that the person is a carrier of the genetic disease; or negative, meaning that a pathogenic or likely pathogenic mutation has not been identified. If a pathogenic autosomal recessive mutation is detected in the same gene in both parents, then there is a 25% risk of the child being born with the genetic disease, and 50% risk of being a carrier like the parents. In case a pathogenic mutation is detected only in one of the parents, then the child has 50% risk of becoming a carrier of the disease².
Screening programs for the detection of carriers of severe genetic diseases have been active around the world for many years, with most of them focusing on β-thalassemia. B-thalassemia is one of the most common hereditary single gene diseases around the world and is the most widespread genetic disease amongst the Cypriot population. Cyprus has the highest percentage of healthy carriers of β-thalassemia worldwide⁴’⁵’⁶. Carrier screening programs for β-thalassemia have been active in Cyprus since 1973. After the implementation of the program, the number of affected babies fell from 51 in 1974 to only 8 in 1979⁴. The number of affected babies kept dropping, with only 5 total affected births between the years of 1991 to 2001⁶. Cyprus’ screening program is one of the most successful programs in the world as far as hereditary hemoglobin diseases are concerned.
According to the American Congress of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG), information about carrier screening testing should be provided to all pregnant women, as well as to those who are planning to start a family. Carrier screening tests can be beneficial for any individual wishing to know more about their carrier profile, couples planning to start their families or who are already expecting, candidate gamete donors for parent-donor compatibility, population groups that are at high risk for specific diseases, and for people who have a known family history of a genetic mutation.
The information obtained with such genetic tests can offer healthcare providers and individuals, couples or prospective parents useful genetic insight into one’s carrier status. Carrier screening tests can inform, guide and empower people on their reproductive choices; help them evaluate their options and take informed decisions regarding prevention and therapy of genetic diseases that may be manageable through early interventions.
Berry RJ, Buehler JW, Strauss LT, et al. 1987. Birth weight-specific infant mortality due to congenital abnormalities, 1960 and 1980. Public Health Report 102:171-81
Nazareth, S. B., Lazarin, G. A., & Goldberg, J. D. (2015). Changing trends in carrier screening for genetic disease in the United States. Prenatal Diagnosis, 35(10), 931–935.https://doi.org/10.1002/pd.4647
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You may contact NIPD Genetics Public Company Ltd at NIPD Genetics Public Company Ltd Neas Engomis 31 Engomi, Nicosia 2409, Cyprus
NIPD Genetics Data Protection Officer can be reached at email@example.com
Type of personal information NIPD Genetics may collect through its Sites
The ways by which NIPD Genetics collects, uses or shares such information
Steps NIPD Genetics takes to protect its sites’ users personal information
This page informs you of our policies regarding the collection, use, and disclosure of personal data when you use our Sites and the choices you have associated with that data.
Type of personal information NIPD Genetics may collect through its Sites
Information Collection And Use
We collect several different types of information for various purposes to provide and improve our Sites and services to you.
While using NIPD Genetics Sites, you may be asked to provide NIPD Genetics certain personally identifiable information that can be used to contact or identify you ("Personal Information"). Personal Information that might be used to identify you includes, but is not limited to:
First name and last name
Address, State, Province, ZIP/Postal code, City
If you send us a query via our Contact us form, your email address, the content and any follow up emails are retained indefinitely.
Cookies and Usage Data
We may also collect information how the Sites are accessed and used ("Usage Data"). This Usage Data may include information such as your computer's Internet Protocol address (e.g. IP address), browser type, browser version, the pages of our Sites that you visit, the time and date of your visit, the time spent on those pages, unique device identifiers and other diagnostic data.
Tracking & Cookies Data
Cookies are files with small amount of data which may include an anonymous unique identifier. Cookies are sent to your browser from a website and stored on your device. Tracking technologies also used are beacons, tags, and scripts to collect and track information and to improve and analyze our Sites.
You can instruct your browser to refuse all cookies or to indicate when a cookie is being sent. However, if you do not accept cookies, you may not be able to use some portions of our Sites.
Examples of Cookies we use:
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Preference Cookies. We use Preference Cookies to remember your preferences and various settings.
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Use of Data
www.nipd.com uses the collected data for various purposes:
To provide and maintain the Sites
To notify you about changes to our Sites
To allow you to participate in interactive features of our Sites when you choose to do so
To provide customer care and support
To provide analysis or valuable information so that we can improve the Sites
To monitor the usage of the Sites
To detect, prevent and address technical issues
Transfer of Data
Your information, including personal data, may be transferred to — and maintained on — computers located outside of your province, country or other governmental jurisdiction where the data protection laws may differ than those from your jurisdiction.
If you are located outside Cyprus and choose to provide information to us, please note that we transfer the data, including personal data, to Cyprus and process it there.
Disclosure of Data
NIPD Genetics complies with the protection of personal data regulation and will not sale or trade your personal data.
NIPD Genetics may disclose your personal data in the good faith belief that such action is necessary to:
To comply with a legal obligation
To protect and defend the rights or property of www.nipd.com
To prevent or investigate possible wrongdoing in connection with the Sites
To protect the personal safety of users of the Sites or the public
To protect against legal liability
Security of Data
The security of your data is important to us, but remember that no method of transmission over the Internet, or method of electronic storage is 100% secure. While we strive to use commercially acceptable means to protect your Personal Data, we cannot guarantee its absolute security.
We may employ third party companies and individuals to facilitate, maintain or operate our Sites ("Service Providers"), to provide the SItes on our behalf, to perform service-related services or to assist us in analyzing how our Sites is used.
These third parties have access to your Personal Data only to perform these tasks on our behalf and are obligated not to disclose or use it for any other purpose.
We may use third-party Service Providers to monitor and analyze the use of our Sites.
Google Analytics is a web analytics service offered by Google that tracks and reports website traffic. Google uses the data collected to track and monitor the use of our Service. This data is shared with other Google services. Google may use the collected data to contextualize and personalize the ads of its own advertising network.
Access to your personal data, correction, deletion, and Opting Out
You have the right to review, update or delete any of your personal data by sending a request at NIPD Genetics Personal Data Officer firstname.lastname@example.org
Links to Other Sites
We have no control over and assume no responsibility for the content, privacy policies or practices of any third-party sites or services.
Our Service does not address anyone under the age of 18 ("Children").
We do not knowingly collect personally identifiable information from anyone under the age of 18. If you are a parent or guardian and you are aware that your Children has provided us with Personal Data, please contact us. If we become aware that we have collected Personal Data from children without verification of parental consent, we take steps to remove that information from our servers.