Chicago Center for Jewish Genetics Disorders - Health Professionals

2004 Practical Guide to Prescribing Genetic Testing for Children and Adults of Ashkenazi Jewish Descent

This guide was printed in February 2004, and distributed to all those who attended the Center’s Physicians and Surgeons Educational Conference. It was written and edited by Dania D’Achille, Genetic Counselor, and Cara Passman, Program Associate, of the Chicago Center for Jewish Genetic Disorders, and reviewed by Brad Angle, M.D., Associate Professor of Pediatrics, Northwestern University Feinberg School of Medicine, and Attending Physician, Division of Genetics, Children’s Memorial Hospital.

For the complete 2004 Practical Guide click here

Basic Guidelines for Genetic Referral
This section is divided into two parts: Indications for Referral and Principles for Talking to Patients.

The first part, “Indications for Referrals,” is designed to help you recognize important warning signs in your patient’s current condition or family history. These signals may indicate a need for genetic screening in order to assess your patient’s risk of Mendelian disorder carrier status or predisposition cancer mutations. Should your patient, or your patient’s family history, exhibit any of these “warning” signs, it is best to refer them to a qualified genetics professional in order to more accurately assess their personal risk and decide on a course of action.

However, discussing the need for genetic counseling is a delicate matter. The second part of this section, “Principles for Talking to Patients,” is designed to guide your discussion. It contains information regarding the most effective way to discuss genetic risks with your patient and to approach them with a referral to genetics, so as not to unduly concern or frighten your patients.

Preconception/Prenatal Genetics
The beginning of this section lists the distinction between Ashkenazi and Sephardic ancestry. However, as this guide concerns patients of Ashkenazi descent, the remainder of the section deals solely with Ashkenazi screening. Click here for detailed information about both the Ashkenazi and Sephardic Mendelian disorders.

In this section, you will find a brief explanation of the purpose of carrier screening, as well as a summary of the complexities and issues associated with Ashkenazi carrier screening. In order to ensure that your patients make educated decisions, you will also find an “Informed Consent Checklist.”

The end of this section concerns the various aspects of genetic testing, such as the turn-around time for results, cost of testing, and family planning options for carrier couples. Finally, this section includes a brief summary of the Dor Yeshorim screening program, available only to preconception, premarital Orthodox Ashkenazi couples.

Pediatric Genetics
When presented with an Ashkenazi Jewish child and specific clinical features, bear in mind certain genetic conditions are more common in the Ashkenazi population. As a pediatric health care provider, you should then refer your patient to genetics in order to confirm or rule out your suspicion.

This section provides a list of neurological, gastroenterological, hematological, skeletal, dermatological, ophthalmologic and otolaryngological symptoms indicative of Jewish genetic conditions, as well as examples of the Jewish Mendelian disorders for which these symptoms are indicative. The symptoms and diseases have also been arranged in a table, found at the end of this section, for your convenience. Detailed information about the Ashkenazi Mendelian disorders can be found in the Index, towards the end of the Practical Guide. For a review of the distinction between Ashkenazi and Sephardic Jewish ancestry, please click here.

Adult Onset Disorders
The majority of Adult Onset disorders in the Ashkenazi community are hereditary cancers. However, with so much media attention devoted to cancer in all its myriad forms, most patients are uninformed of the distinction between hereditary and non-hereditary cancers and are wholly unaware that they may be at a greater risk of such cancers due to their ethnicity and genetic make-up.

The first part of this section is designed to supply you with basic facts about hereditary cancers and to help you determine when to suspect a hereditary cancer. It also explains the importance of genetic counseling risk assessment, which includes genetic testing, and instructs you how and where to refer patients for risk assessment.

The final two parts of this section detail colon cancer and breast/ovarian cancer syndromes, which are the common prevalent Ashkenazi hereditary cancers. More technical information about both the Ashkenazi Predisposition disorders can be found here.

Ethical, Legal and Social Implications of Genetic Testing
“Perhaps the greatest fear of genetic research is that, with this rapid progression of science into uncharted territory, challenging questions arise about how the new capabilities and technologies will be used. The societal debate over the applications of genetics to medicine must address concerns over privacy and confidentiality of genetic test results, fears of social stigmatization, protection from discrimination in employment or insurance, and avoidance of the misuse of genetic technologies and information. Like any other new technology, the risks, benefits, applications and limitations of medical genetic technologies must be carefully explored and evaluated in order to optimize the capabilities and minimize the abuses.” (Alford, Raye Lynn, Ph.D., Genetics & Your Health, A Guide for the 21st Century Family, Medford Press, Medford, NJ. 1999, pg. xvi.)

Physicians are on the forefront of the new technology and are both in the position to impact and are impacted by these important ethical, legal and social issues, which affect their patients and their practice. Some of the areas of greatest concern include: fairness in the use of genetic information, privacy and confidentiality of test results, the psychological impact of a genetic diagnosis for individuals and families, recommendation of genetic testing when no treatment is available, testing of minors for adult-onset diseases, the impact of genetic testing on reproductive decision-making and fair access to the benefits to be gained from new discoveries. The education of health care providers, patients and the general public regarding the proper use of genetic technologies and the implementation of standards and quality control measures in testing procedures will also determine the level of acceptance of the use of genetic technology in medical practice.

The following page provides a brief list of general bioethical issues that may relate to your practice, as well as a handful of online resources. For an extensive and in-depth discussion of the financial, ethical, legal and social issues raised by the increased availability of genetic information, see Genetics and Your Practice, an online professional education module developed by the March of Dimes.