PGD For Hereditary Cancer Syndromes

Webinar:

Stop the Cycle of Hereditary Cancers

A free webinar for patients and providers to learn more about preimplantation genetic diagnosis (PGD).

Gain access to our full PGD webinar recorded on November 15th, 2017

Meet Whitney & Brittany

Whitney and Brittany always knew they wanted to become parents, but they were concerned about the long-standing history of breast cancer in Whitney’s family. Whitney went in for a genetic test and learned that he was indeed a carrier of the BRCA gene.

Through a visit to Oregon Reproductive Medicine (ORM) they learned about preimplantation genetic diagnosis (PGD), which allowed them to proceed with their plans to have children while significantly reducing the chances of passing on the BRCA gene to their offspring. This gave them peace of mind during pregnancy and in the summer of 2016, they had a healthy baby boy. The entire family, including Whitney’s mom, also a carrier of the breast cancer gene, were thrilled to learn that the new member of the family won’t be affected by the same hereditary cancer that has impacted their lives and the lives of so many of their relatives.

“They’ve seen, they’ve felt the impact of the breast cancer gene in the family. Just countless cases of breast cancer throughout the family. Being able to eliminate that from our lineage is something that my mom was just thrilled to know was going to happen.”

About Preimplantation Genetic Diagnosis for Hereditary Cancer Syndromes

Most cancer is sporadic, meaning it happens by chance. About 10% of cancers are related to hereditary cancer syndromes. Individuals with a hereditary cancer syndrome have an inherited predisposition to develop certain types of cancer. The risk for these individuals to develop cancer is significantly higher than in the general population.

Generally, PGD can be offered for any hereditary cancer syndrome if the genetic mutation(s) in the family are known. PGD has been successfully performed for many hereditary cancer syndromes, including the following:

  • Hereditary Breast and Ovarian Cancer (BRCA 1 & 2)
  • Lynch Syndrome (hereditary nonpolyposis colon cancer)
  • Familial Adenomatous Polyposis
  • Hereditary Diffuse Gastric Cancer
  • Li-Fraumeni Syndrome
  • Multiple Endocrine Neoplasia
  • Von-Hippel Lindau
  • Retinoblastoma

Hereditary cancer syndromes are typically caused by harmful variants, or mutations, in genes that prevent cancer. These genetic variants are usually inherited in a dominant pattern. This means first-degree relatives (parents, siblings and children) of an affected individual each have a 50% chance of also having the genetic variant and cancer predisposition.

Features that suggest a family has a hereditary cancer syndrome include having multiple relatives with the same or related type of cancer, multiple affected generations, young ages of diagnosis, or an individual with multiple primary cancers.

Genetic counseling and testing is available for families with a history suggestive of a hereditary cancer syndrome. Genetic testing is typically done with either a blood test or a saliva test. If this testing identifies a genetic variant, other family members have the option of having testing done to determine whether they also have an increased risk of developing cancer. There are pros and cons to genetic testing, and it is best to discuss your family history and this testing in detail with a genetic counselor or your physician. You may locate a genetic counselor in your area on the National Society of Genetic Counselors website: http://www.aboutgeneticcounselors.com/.

PGD offers hope to individuals or couples at risk of passing on a condition that could impact the quality of life of their offspring. Patients report that preventing their child from inheriting a hereditary cancer gene is one of the most important things they can do as a parent. As all pregnancies conceived spontaneously would be at risk of having the heritable condition, invasive prenatal diagnosis is the only other option to learn the genetic status of offspring prior to delivery. Many people wish to avoid being in the stressful and emotional position of learning this information while pregnant. PGD provides reassurance that the risk for their child to be affected is very low. PGD can provide peace of mind during pregnancy and after birth, and can lead to better long-term outcomes for the family and their children.

Most individuals with a hereditary cancer syndrome have a 50% chance of passing the gene to their offspring. Those who wish to decrease the chance of passing the gene on may consider prenatal diagnosis, preimplantation genetic diagnosis (PGD), or using an egg or sperm donor.

Prenatal diagnosis is typically done by chorionic villus sampling or amniocentesis. Individuals who have prenatal diagnosis would have the option of continuing or terminating an affected pregnancy.

If you choose not to have prenatal diagnosis or PGD, your children can have genetic testing after they are born.*

*Most experts agree that genetic testing for adult-onset hereditary cancer syndromes, such as Hereditary Breast and Ovarian Cancer syndrome or Lynch syndrome, should be deferred until adulthood.

Some countries have strict laws regarding genetic testing on embryos, egg donation, and surrogacy. In addition, some countries do not provide coverage or access to IVF to same-sex couples or single individuals. ORM welcomes all global patients who do not have access to PGD or IVF clinics with high success rates.

Generally, PGD can be offered for any condition in which the genetic mutation responsible for the condition in the family is known. Some patients come to us already having identified the mutation in their family. Others need help facilitating the genetic testing process. In either case, we can help.
ORM offers complimentary case-reviews with a board-certified genetic counselor.

The costs vary depending on the IVF clinic and the specific situation. We recommend that you reach out to our team if you would like to receive a personalized estimate.

Patient Advocacy Groups

Sharsheret: Cancer Support at every age
Fight Colorectal Cancer
Force: Forcing our risk of cancer empowered.

Contact Oregon Reproductive Medicine for more information today.

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