Date ______,

Dear ______,

I am writing to inform you that I recently had carrier screening. Carrier screening is a type of genetic test used to identify carriers of inherited conditions. Carriers have genetic changes in their DNA that increases their risk to have a child affected with a genetic disorder. Research has shown that most people are a carrier for at least one condition; however, most people are not aware of their carrier status because they do not have symptoms or a family history of disease.

My doctor/genetic counselor (circle one) discussed the details about carrier screening with me for family planning purposes. The American College of Obstetricians and Gynecologists (ACOG) recommends that every pregnant woman or woman considering pregnancy should be offered carrier screening. Knowing my carrier status will assist me and my reproductive partner in preparing for our future family. If my partner and I are identified as carriers for the same genetic condition, we have the opportunity to consider different options for family planning.

To determine the condition(s) for which I am a carrier, my healthcare provider ordered the Beacon Carrier Screening test offered by Fulgent Genetics, a CLIA-certified and CAP-accredited genetic testing laboratory.

My Test Results

My test results indicated that I am a carrier for the following condition(s):

______

______

(a full description of genetic disorders can be found at

Because we are related, it is possible that you may be a carrier for this change as well. You may want to consider carrier screening to determine your status and risks to have an affected child.

This test is completely voluntary and your results are confidential and protected by The Genetic Information Nondiscrimination Act (GINA). GINA was signed into law in 2008; it protects Americans from discrimination by an employer or a health insurance company based on genetic testing results and genetic information. Importantly, GINA does not offer protections for disability, long term care, or life insurance. It also does not apply to members of the U.S. military or employees of the Federal government, Indian Health Service, or Veterans Health Administration.

What causes recessive genetic conditions and how are they inherited?

Genes contain our genetic information (DNA) which tells our bodies how to grow and develop. For most genes, we inherit two copies: one from our mother and one from our father. We all have genetic changes; many are benign and do not cause disease. However, some changes (mutations) may be harmful, preventing a gene to work properly. These harmful changes may cause disease in ourselves or in our children when passed down.

Recessive genetic conditions can be inherited in two different ways: in an autosomal recessive or X-linked recessive manner. An autosomal recessive condition occurs when a child inherits two mutated copies of a gene; one copy from each carrier parent. Because carriers have just one abnormal copy, they usually do not display symptoms. If my partner and I are carriers for the same autosomal recessive condition, there is a 1 in 4 (25%) chance with each pregnancy that our child will be affected.

X-linked recessive conditions occur due to a mutated gene located on the X chromosome. Because males only have one X chromosome, a boy will be affected if he inherits the abnormal gene from his mother. Females with one abnormal gene are carriers and are usually unaffected because they have two X chromosomes. If the mother is a carrier for an X-linked recessive condition, there is a 1 in 2 (50%) chance her sons will be affected, and a 1 in 2 (50%) chance her daughters will be carriers.

Where can I find additional information about the Beacon Carrier Screening test?

If you are interested in learning your carrier status, it is important to discuss this information with your doctor or genetic counselor. You can provide them with a copy of this letter. Also, for additional information about the Beacon Carrier Screening test, I have included a copy of the patient brochure for this test. You may also want to visit If you have questions for me, please let me know.

Sincerely,