Matchmygenome - Couple Carrier Screening

Carrier screening has become an essential part of modern reproductive health. With advancements in genetic testing, determining the risk of passing genetic disorders to future generations is no longer an option, but best practice, especially for couples planning to conceive. The American College of Obstetricians and Gynecologists (ACOG) recommends carrier screening for all patients either preconception or during pregnancy. This recommendation stems from the fact that over 7,000 diseases have single-gene inheritance, and approximately 15% of these conditions are inherited in a recessive manner.

Matchmygenome is a comprehensive couple carrier screening test designed to assess the genetic compatibility of partners before conception. It helps couples understand their carrier status for various common genetic disorders, enabling them to make informed reproductive decisions. Using high-resolution Next Generation Sequencing (NGS), Matchmygenome screens for potential pathogenic genetic variants, making it a critical tool in preconception planning.

Why Carrier Screening?

Carrier screening is essential because every individual, on average, carries 6-7 non-working genes that can cause severe genetic disorders. These genes may not cause health issues in carriers, but if both parents carry mutations in the same gene, there is a 25% chance their child will inherit the disorder. This is particularly concerning for recessive genetic conditions, where both gene copies need to be faulty for the disease to manifest.

Even without a family history of a specific condition, individuals can carry a gene mutation. Carrier screening identifies potential genetic risks, helping couples plan for a healthy family. This is particularly important if:

• You are planning to conceive and want to understand your genetic risks.
• You are entering into a marriage and want to screen for compatibility.
• There is a family history of genetic disorders.

Carrier screening is especially beneficial for consanguineous couples, those from similar ethnic backgrounds, or those with a known history of genetic disorders.

Common Genetic Disorders Screened

Matchmygenome screens for a variety of genetic disorders, including but not limited to:

Autosomal Recessive Disorders	Hunter Syndrome
X-Linked Disorders	Congenital Adrenal Hyperplasia
Beta Thalassemia	G6PD Deficiency
Duchenne Muscular Dystrophy	Spinal Muscular Atrophy (SMA)
Sickle Cell Anemia	X-Linked Mental Retardation
Hemophilia A/B	Congenital Hypothyroidism
Cystic Fibrosis

Clinical Utility

The clinical benefits of Matchmygenome’s Couple Carrier Screening include:

• Diagnosing Carrier Status: It helps identify whether an individual is a carrier for autosomal recessive or X-linked disorders, guiding reproductive decisions.
• Clarifying Genetic History: By distinguishing between inherited mutations and new (de novo) mutations, it offers insight into the genetic health of both partners.
• Copy Number Variations: The screening assesses copy number changes, which can help clarify the genetic basis of certain conditions.
• Informed Management: Identifying carrier status allows for tailored lifestyle interventions and better management of conditions that may manifest in future offspring.
  
  

When is Carrier Screening Recommended?

Carrier screening is recommended in several situations, including:

• Preconception Screening: Couples planning to start a family should undergo carrier screening to identify any potential genetic risks.
• Premarital Screening: Individuals or couples planning marriage, particularly those from communities or ethnic groups with higher risks of genetic disorders, should consider screening.
• Consanguineous Marriages: Couples who are related or from the same ethnic group have a higher risk of shared genetic mutations and should undergo carrier screening.
• Couples with a History of Genetic Disorders or Pregnancy Loss: If there’s a family history of genetic disorders or previous pregnancies with Mendelian disorders, recurrent miscarriages, or infertility, carrier screening is strongly recommended.
• Relatives of Known Carriers: Carrier screening is also essential for the partners and relatives of individuals already identified as carriers of genetic disorders.

MapmyGenome - Carrier Screening Offerings

Matchmygenome provides a state-of-the-art carrier screening service with the following features:

1. Advanced NGS Panel: The test utilizes a globally recognized Illumina platform to deliver high-density screening for over 2,000 genetic conditions. The panel is comprehensive, offering a wide scope of genetic insights into potential carrier status.
2. Genetic Counseling: Pre-test and post-test genetic counseling is provided, ensuring that couples fully understand the implications of their test results. The counseling includes pedigree analysis to trace genetic conditions within the family and personalized recommendations.
3. Detailed Analysis: The screening covers all known autosomal recessive conditions and includes analysis according to international recommendations from ACOG, ACMG, and ICMR, ensuring the results are reliable and actionable.

Test specifications

 

Learn more:

Read: Discover More About Carrier Screening - Future-Proof Your Family

Listen: The Importance of Couple Carrier Screening

Watch: How Couple Carrier Screening Can Shape Your Family’s Future