Carrier screening for genetic diseases

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.

  1. 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
  2. National Library of Medicine National Institutes of Health, (2020),
  3. The American College of Obstetricians and Gynecologists,(2018),
  4., (2015),
  5. National Library of Medicine National Institutes of Health, (2020),
  6. Ministry of Health Cyprus, (2018)
  7. Cousens, Nicole E et al. “Carrier screening for beta-thalassaemia: a review of international practice.” European Journal of Human Genetics: EJHG vol. 18,10 (2010): 1077-83. doi:10.1038/ejhg.2010.90
  8. In-cyprus,(2019),
  9. 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.

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NIPD Genetics - Privacy Policy

General Statement

NIPD Genetics is a leading, innovative biotechnology company that designs, develops, and provides a broad spectrum of healthcare services to its customers through its expansive portfolio of molecular and clinical laboratory tests in all disciplines.

At NIPD Genetics we are committed to protecting and respecting our customer’s privacy and personal information. Personal information or personal data means any information that identifies, relates to, describes, is capable of being associated with, or could be reasonably linked, directly or indirectly, with a particular individual, such as name, identification number, location data, an online identifier or to one or more factors specific to the physical, physiological, genetic, mental, economic, cultural or social identity of that individual.

NIPD Genetics collects and processes your personal information according to the General Data Protection Regulation (EU) 2016/679 and the Cypriot law providing for the protection of natural persons with regards to the processing of personal data and for the free movement of such data (L. 125(I)/2018). The following principles lie at the heart of our approach to handling personal data:

NIPD Genetics has appointed a Data Protection Officer (DPO) who is responsible for overseeing and ensuring that personal information is collected and processed in line with these principles. The contact details of the Data Protection Officer (DPO) can be found below:

Email address:

Postal address: 31 Neas Engomis street, 2409 Engomi, Nicosia, Cyprus

Telephone number: + 357 22266888

By accessing or using our products or services, or by transmitting information to us by email or other electronic means, you accept our policies, procedures and practices described in this Privacy Policy. If you do not agree with our policies, procedures and practices as described, you can choose not to access or use our products or services or not to transmit personal information to us.

This Privacy Policy applies to NIPD Genetics facilities, its websites,, and their subdomains, that link to this privacy pol icy.


We collect and process several types of personal information from and about users of our websites and of our products and services, including:

Information about children

If you are under 18 years of age, do not register on our website or provide any information about yourself to us. We do not provide our products or services directly to children or proactively collect their personal information. Despite this prohibition, it is possible that we may sometimes be given information about children while handling samples from our customers in our clinical labs, or through use of our products and services by our customers and partners. If we become aware that we have inadvertently collected personal information from children under the age of 18, without parental consent, we will take the necessary steps to delete it as soon as possible in compliance with applicable laws.


Your personal information is collected by NIPD Genetics for the following purposes:

  1. To provide you with our products and services, respond to your inquiries or fulfill your requests and otherwise manage your relationship with us. The legal basis for processing is to meet the requirements of a contract, to comply with our legal obligations and/or because we have a legitimate interest in responding to requests for information about our products and services.
  2. To communicate with you about content and product offerings, newsletters and event invitations which are relevant to your interests and in line with your preferences. The legal basis for processing is the individual’s explicit consent prior to sending the information and managing individuals preferences.
  3. To process and respond to complaints. The legal basis for processing is to meet a legal obligation.
  4. To monitor and record information relating to the use of our products and services, including our website. The legal basis for processing is our legitimate interest in order to improve our products and services and our website for individuals.

To provide our products and services, NIPD Genetics may collect, receive and process biological samples to isolate and sequence DNA. NIPD Genetics may then store resulting genetic information and use genetic information to provide our products and services. In some cases, NIPD Genetics may provide interpretations of genetic information on behalf of its customers, including healthcare providers. This is only done pursuant to a written contract or a Sample Information Form with a patient’s informed consent and is subject to applicable legal and ethical safeguards.

This sensitive information described above is collected by NIPD Genetics for the following purposes:

  1. To provide support and maintenance services to customers who use our products and services – The legal basis for processing is to meet the requirements of a contract.
  2. To provide genotyping and sequencing services and analysis for our customers, including healthcare providers. The legal basis of this processing is to meet the requirements of a contract or as allowed in the Sample Information Form with a patient’s informed consent.
  3. To conduct genotyping and sequencing services and analysis for quality control, process and product development and improvements, and optimization in our labs to reflect quality improvements and advances in our technology. The legal basis for processing is the patient’s informed consent given through the Sample Information Form.

Transfer of Data

Your information, including personal data, may be transferred to - and maintained on - computers located outside 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.

Your consent to this Privacy Policy followed by your submission of such information represents your agreement to that transfer.

NIPD Genetics will take all reasonable steps necessary to ensure that your data is treated securely and in accordance with this Privacy Policy and no transfer of your personal information will take place to an organization or a country unless there are adequate controls in place including the security of your data and other personal information.

Disclosure of Data

NIPD Genetics complies with the General Data Protection Regulation and will not sell or trade your personal information.

NIPD Genetics may disclose your personal information in the good faith that such action is necessary:


Cookies are files with small amount of data which may include an anonymous unique identifiers. Cookies are sent to your browser when you visit a website and stored on your device. Tracking technologies used on the website are beacons, tags and scripts, to collect and track information and to improve and analyze our websites.

We use cookies and similar tracking technologies to track the activity on our websites and collect certain information. This includes information about the computer or device you are using, such as Internet protocol (IP) address, information about the browser type or version, the pages of our website that you visit, the time and date of your visit, the time spent on those pages, unique device identifiers and other diagnostic data.

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 websites.

Examples of Cookies we may use:

Session Cookies. We use Session Cookies to operate our websites.

Preference Cookies. We use Preference Cookies to remember your preferences and various settings.

Security Cookies. We use Security Cookies for security purposes.

Visitor behavior cookies. To understand how visitors use and navigate the websites

Keyword cookies. To understand how visitors discover the websites.


We may use third-party Service Providers to monitor and analyze the use of our websites.

Google Analytics

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.

You can opt-out of having made your activity on the Service available to Google Analytics by installing the Google Analytics opt-out browser add-on. The add-on prevents the Google Analytics JavaScript (ga.js, analytics.js, and dc.js) from sharing information with Google Analytics about visits activity.

For more information on the privacy practices of Google, please visit the Google Privacy & Terms web page


We are committed to protecting the security of the information we collect, and we take reasonable physical, technical, and administrative safeguards such as data anonymization and encryption to help protect personal information from unauthorized or inappropriate access or use. It is your responsibility to protect the confidentiality of your passwords, and any other access features associated with your access or use of the website or our products and services, as well as to adhere to any applicable Terms of Use or other contract between us and you or your organization.


We may retain collected information even after you remove it from the website, our Services, or our Products, to comply with applicable law, to resolve disputes, to enforce any rights in connection with the website, our Services, or our Products, and to use as provided in this Privacy Policy, the Terms of Use, or an applicable contract between us and you or your organization. How long we retain specific personal information varies depending on the purpose for its use and we may delete or retain your personal information in accordance with applicable law.


We may employ third party companies and individuals to facilitate, maintain or operate our websites (“Service Providers”), to provide the websites on our behalf, to perform service-related services or to assist us in analyzing how our websites are 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.


Our websites may contain links to other sites that are not operated by us. If you click on a third-party link, you will be directed to that third party's site. We strongly advise you to review the Privacy Policy of every site you visit.

We have no control over and assume no responsibility for the content, privacy policies or practices of any third-party sites or services.


This Privacy Policy may be updated from time to time. We will notify you of any changes by posting the new Privacy Policy on this page.

We will let you know via email and/or a prominent notice on our website, prior to the change becoming effective and update the “effective date” at the bottom of this Privacy Policy.

You are advised to review this Privacy Policy periodically for any changes. Changes to this Privacy Policy are effective when they are posted on this page.


NIPD Genetics ensures that it can respond immediately to requests that you make for the exercise of your legal rights in accordance with data protection laws. These rights are as follows:

You also have the right to lodge a complaint at any time to the Office of the Commissioner for Personal Data Protection.

We encourage you to contact us, should you wish to practice any of your legal rights or you have any questions about this Privacy Policy, by sending an email to NIPD Genetics’ Data Protection Officer at

Effective date: 18/06/2021

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