Genetic Screening

 
Genetic Screening
Date Uploaded: 
Friday 27th July 2018

Jnetics

Jnetics was established to raise awareness of Jewish genetic disorders and to help anyone affected and at risk to access the best information, services and support available. Jnetics is a charity not connected to the United Synagogue however we wanted to let you know about their important work.

 

 I am getting married, why is it so important that I get screened for Jewish genetic disorders (JGDs)?

It is common for Jewish people to be ‘healthy carriers’ for certain recessive genetic disorders. Though unaffected themselves, ‘carriers’ are at increased risk of having children born with severely debilitating, life-shortening disorders.

It is now possible to completely prevent these devastating disorders. 

Carrier screening identifies if you are a ‘carrier’ - at risk of passing on - a severe, recessive JGD. This information enables you and your partner to explore the various options available to ensure that your children do not inherit any of these disorders.

If you have not already had screening, you are strongly advised to get screened before starting a family to help protect the health of your future children. 

 

How likely is it that I am a carrier for one of these Jewish genetic disorders?

1 in 5 Ashkenazi Jews are ‘healthy’ carriers of at least one severe, recessive JGDs.

Screening for these disorders is appropriate and advised for people of Ashkenazi Jewish origin – even if only 1 of your 4 grandparents is Ashkenazi Jewish.

Sephardi Jews are at risk of being carriers for a different set of disorders, that vary according to their ancestors’ country of origin. For more information click: http://www.jnetics.org/jewish_genetic_disorders/sephardi_disorders

 

Do both my partner and I need to be screened?

For recessive Jewish genetic disorders, BOTH partners in a couple need to be carriers for the SAME condition for your children to be at risk of being born with that condition.

If the results of your screening show that you are not a carrier for any of the disorders being tested, then it is not necessary for your partner to be screened for these conditions.

However, if you are found to be a carrier – it is essential that your partner is also screened to check whether they are a carrier for the same condition.   

NOTE – even if both you and your partner are carriers for the same disorder, there are options for ensuring that your children are not born with this disorder.

 

Where can I get tested for Jewish genetic disorders (JGDs)?

Two community organisations provide screening for the most severe JGDs.

Jnetics

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Book an appointment online for a session at the Jnetics weekly clinic where you will meet with a genetic counsellor who will answer any questions and carry out the screening.

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Testing is done via a saliva sample and results are returned to you within 8-10 weeks.

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The total cost for screening for 9 severe, recessive JGDs, including counselling services, is £190.

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For more information and to book, click: www.jnetics.org or call 0208 123 5022

Dor Yeshorim

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Screening opportunities and appointments are arranged by calling the Dor Yeshorim hotline.

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Testing is done via a blood sample and the results are not disclosed to you. Your will receive a 9-digit code within 12-16 weeks after screening that can be cross-referenced with your potential partner’s code to find out your compatibility status. No results other than ‘compatible’ or ‘non-compatible’ are given.

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The screening cost for a standard 9-disorder panel is £160. Additional panels are available at additional cost.

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For more information, visit: www.doryeshorim.org or call the Dor Yeshorim hotline on 020-8880-0208.

 

What are the options if both my partner and I are carriers for the same conditions?

There are several options available for couples who are carriers for the same condition, known as ‘carrier couples’.

An increasingly popular option is Pre-implantation Genetic Diagnosis (PGD). This is a process that involves IVF to create embryos that can be screened to check if they will develop into an affected child. Only embryos that will not result in having an affected child are chosen to be implanted back in the mothers’ womb.

For information about all the options available, please visit: www.jnetics.org or email: screening@jnetics.org.

 

Should I get screened for any other disorders?

If someone in your family is a carrier of, or affected by, a severe genetic condition that is different from those in the standard Ashkenazi panels, then it may be advisable to get screened for that disorder. Where a clear family history is identified, the NHS may provide disorder specific screening. Ask your GP to refer you to your local clinical genetics centre to explore if you have access to screening for a disorder known in your family.

If you have a family history of a dominant condition such as Dystonia or, more commonly, breast, ovarian, prostate or pancreatic cancer associated with the BRCA genes, screening for these may also be advisable and available on the NHS. You can ask your GP to refer you to your local genetics service for a discussion with a genetic counsellor. For more information about hereditary cancers, see: www.jnetics.org/jewish_genetic_disorders/hereditary_cancers.