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For Medical Professionals

The medical professional, especially the OB/GYN, the pediatrician and the genetic counselor, can be vital in promoting timely and appropriate carrier screening for for individuals thinking of starting a family. The Canavan Foundation strongly urges medical professionals to identify patients in their childbearing years and to counsel them about the benefits of preconception carrier screening.

The Importance of Preconception Genetic Screening

In the past few years, advances in genetic science have led to the identification of scores of mutations linked to genetic diseases.The leading professional societies, such as the ACOG and ACMG, recommend that anyone who wants to start or add to a family should know their carrier status and, if necessary, be counseled about the reproductive options available to them.

Despite the widespread availability of carrier screening and counseling for genetic diseases, there are still many couples who become pregnant each year without having been screened for carrier status, and dozens of children born every year with serious, life-threatening, life-altering or even fatal diseases that might have been prevented. 

For the OB/GYN, The Pediatrician and the Primary Care Provider

The Canavan Foundation distributes free patient-education brochures (view PDF) published by the Jewish Genetic Disease Consortium, of which we are a member.  Please contact us for a supply.   

The OB/GYN should counsel patients planning to become pregnan about about the availability of carrier screening. The best way to start a conversation may be to give the patient a copy of the JGDC brochure.

The pediatrician and the primary care provider may see patients who will become pregnant before ever seeing an Ob-Gyn. They should explain the value of genetic screening before pregnancy. The patient may told that when the time comes, they should seek screening.

The pediatrician should also identify parents who are still in their childbearing years, who may never have been screened, or whose screening may not be up to date, due to the new diseases for which screening has become available. These parents can be told to speak to their own doctors about screening.

Questions to Ask Your Patients

Patients turn to their healthcare professionals as trusted sources of information. They expect to be told if they are in a particular risk group or if a particular test is right for them.

We would ask that you bring up the following questions with patients in their childbearing years. This advice is consistent with recommendations from the ACMG and ACOG in terms of patients from specific ethnic groups in which genetic diseases are at issue, although our updated disease lists are more comprehensive than their recommendations.

  • Do they have any heritage for which specific genetic test are recommended, such as Ashkenazi Jewish, Mediterranean, Southeast Asian or African?
  • Are they considering becoming pregnant?
  • Do they know of any inherited genetic conditions in their family?
  • Have they ever been screened for genetic diseases? If so, do have they access to their screening reports?
  • Do they understand the reason for preconception carrier screening? Do they know about the reproductive options available to them even if they are both found to be carriers of the same disease?
  • Do they know that the fetus cannot be screened for genetic diseases unless the parents have first been screened and the mutations they carry have been identified?

Screening when Donor Sperm or Egg is Utilized

In terms of a couple (mixed sex or same sex) or a single woman using donor sperm or eggs, it is important that any person who is providing either egg or sperm be screened for genetic diseases, whether parent or donor.

Resources and Training for Medical Professionals

We distribute free patient-education brochures published by the Jewish Genetic Disease Consortium, of which we are a member.  Please contact us for a supply.  

Recent Articles from the Professional Societies about Updated Screening Recommendations

"Carrier Screening in the Age of Genomic Medicine" (American College of Obstetricians and Gynecologists) Click here

"Screening for autosomal recessive and X-linked conditions during pregnancy" (American College of Medical Genetics and Genomics) Click here.

"Expanded Carrier Screening in Reproductive Medicine – Points to Consider" (Joint statment from ACMG, ACOG, NSGC, PQF, SMFM) Click here

The JGDC has brought their Grand Rounds presentation to over a hundred locations around the country. If you would like them to bring the presentation to your hospital, practice or community, please contact the JGDC directly.